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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

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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 N Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chrNW_004624750:13,065,300...13,309,439
Ensembl chrNW_004624750:13,063,009...13,254,499 		JBrowse link
G G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr11:89,066,952...89,246,177 JBrowse link
G S Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chrNW_004936507:10,077,345...10,264,705
Ensembl chrNW_004936507:10,098,171...10,264,716 		JBrowse link
G D CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr15:33,873,600...34,052,498
Ensembl chr15:33,878,467...34,092,094 		JBrowse link
G B CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr12:91,220,813...91,593,799 JBrowse link
G R Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY		 OMIM
CTD
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr 7:29,940,240...29,952,907
Ensembl chr 7:29,798,586...29,952,907 		JBrowse link
G M Cradd CASP2 and RIPK1 domain containing adaptor with death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY		 OMIM
CTD
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr10:95,010,601...95,160,000
Ensembl chr10:95,010,608...95,159,995 		JBrowse link
G H CRADD CASP2 and RIPK1 domain containing adaptor with death domain IAGP
EXP		 ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:30914828 NCBI chr12:93,677,375...93,894,840
Ensembl chr12:93,677,375...93,894,840 		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 N 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chrNW_004624766:21,704,836...21,710,286
Ensembl chrNW_004624766:21,704,798...21,710,633 		JBrowse link
G 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 1:602,594...609,388
Ensembl chr 1:602,721...607,893 		JBrowse link
G P 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 2:499,294...505,740
Ensembl chr 2:499,303...504,871 		JBrowse link
G S 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chrNW_004936888:565,889...571,273
Ensembl chrNW_004936888:565,912...571,247 		JBrowse link
G D 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107 		JBrowse link
G B 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr11:816,629...827,295
Ensembl chr11:860,899...867,436 		JBrowse link
G C 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chrNW_004955476:11,325,877...11,331,447
Ensembl chrNW_004955476:11,326,626...11,331,360 		JBrowse link
G R 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699 		JBrowse link
G M 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-associated neurodevelopmental disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr 7:141,018,026...141,027,477
Ensembl chr 7:141,018,026...141,023,938 		JBrowse link
G H PIDD1 p53-induced death domain protein 1 IAGP ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly
ClinVar Annotator: match by term: PIDD1-associated neurodevelopmental disorder		 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr11:799,184...809,501
Ensembl chr11:799,179...809,753 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actb actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chrNW_004624740:28,087,051...28,090,359
Ensembl chrNW_004624740:28,087,736...28,090,512 		JBrowse link
G G ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr28:16,195,676...16,197,161
Ensembl chr12:52,426,752...52,427,879 		JBrowse link
G P ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G S Actb actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G D ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G B ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More...
G C Actb actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585 		JBrowse link
G R Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G M Actb actin, beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G H ACTB actin beta IAGP ClinVar Annotator: match by term: Baraitser-Winter syndrome
ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome		 ClinVar PMID:1415343 PMID:9714430 PMID:10327243 PMID:12325076 PMID:16685646 More... NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G N Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637 		JBrowse link
G G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr16:73,456,907...73,459,777 JBrowse link
G P ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G S Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
G D ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G B ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		JBrowse link
G C Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		JBrowse link
G R Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G M Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G H ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: Baraitser-Winter syndrome ClinVar PMID:31231230 PMID:32028042 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actb actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chrNW_004624740:28,087,051...28,090,359
Ensembl chrNW_004624740:28,087,736...28,090,512 		JBrowse link
G G ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr28:16,195,676...16,197,161
Ensembl chr12:52,426,752...52,427,879 		JBrowse link
G P ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356 		JBrowse link
G S Actb actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G D ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G B ACTB actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More...
G C Actb actin beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation OMIM
ClinVar		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chrNW_004955460:10,358,100...10,361,585
Ensembl chrNW_004955460:10,356,699...10,361,585 		JBrowse link
G R Actb actin, beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G M Actb actin, beta ISO ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G H ACTB actin beta IAGP
EXP		 ClinVar Annotator: match by term: Baraitser-Winter syndrome 1
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 term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1415343 PMID:3445035 PMID:9536098 PMID:9714430 PMID:10327243 More... NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G N Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637 		JBrowse link
G G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr16:73,456,907...73,459,777 JBrowse link
G P ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G S Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
G D ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G B ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		JBrowse link
G C Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		JBrowse link
G R Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G M Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G H ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: CEREBROOCULOFACIAL LYMPHATIC SYNDROME ClinVar PMID:31231230 PMID:32028042 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637 		JBrowse link
G G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr16:73,456,907...73,459,777 JBrowse link
G P ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G S Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
G D ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G B ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		JBrowse link
G C Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2 OMIM
ClinVar		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		JBrowse link
G R Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G M Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G H ACTG1 actin gamma 1 IAGP
EXP		 ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
ClinVar Annotator: match by term: ACTG1-related condition | ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2 | ClinVar Annotator: match by term: Baraitser-winter syndrome 2
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3351890 PMID:9536098 PMID:13680526 PMID:14684684 PMID:16773128 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G H LOC130061940 ATAC-STARR-seq lymphoblastoid active region 12964 IAGP ClinVar Annotator: match by term: Baraitser-Winter Syndrome 2
ClinVar Annotator: match by term: Baraitser-winter syndrome 2		 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 More... NCBI chr17:81,512,245...81,512,334 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 H LOC129929200 ATAC-STARR-seq lymphoblastoid active region 65 IAGP ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly ClinVar PMID:25741868 NCBI chr 1:3,727,621...3,727,720 JBrowse link
G N Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289 		JBrowse link
G G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691 		JBrowse link
G P TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990 		JBrowse link
G S Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464 		JBrowse link
G D TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
G B TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206 		JBrowse link
G C Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982 		JBrowse link
G R Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
G H TP73 tumor protein p73 IAGP ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G M Trp73 transformation related protein 73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		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 N Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly, X-linked ClinVar PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R Dcx doublecortin ISO DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by term: Lissencephaly, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M Dcx doublecortin ISO DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by term: Lissencephaly, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin IAGP
EXP		 DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
ClinVar Annotator: match by term: Lissencephaly, X-linked
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple		 ClinVar
CTD
RGD		 PMID:11175293 PMID:11468322 PMID:18414213 PMID:18685874 PMID:23365099 More... RGD:11568595, RGD:12904735, RGD:12904728 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G N Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chrNW_004624739:21,771,617...21,843,888
Ensembl chrNW_004624739:21,771,226...21,843,884 		JBrowse link
G G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr21:76,829,287...76,914,348
Ensembl chr21:76,829,443...76,914,324 		JBrowse link
G P LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G S Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chrNW_004936479:16,177,200...16,245,268
Ensembl chrNW_004936479:16,177,158...16,247,165 		JBrowse link
G D LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G B LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G C Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G R Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G M Lamb1 laminin B1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr12:31,315,230...31,379,643
Ensembl chr12:31,315,233...31,379,643 		JBrowse link
G H LAMB1 laminin subunit beta 1 IAGP ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G H LOC130059964 ATAC-STARR-seq lymphoblastoid silent region 8006 IAGP ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr17:2,593,693...2,593,922 JBrowse link
G N Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chrNW_004624786:5,039,699...5,057,789
Ensembl chrNW_004624786:5,039,699...5,055,491 		JBrowse link
G G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr16:2,015,450...2,032,742
Ensembl chr16:2,014,450...2,033,024 		JBrowse link
G P MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,239...48,486,729 		JBrowse link
G S Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chrNW_004936538:8,439,548...8,456,021
Ensembl chrNW_004936538:8,439,363...8,456,159 		JBrowse link
G D MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705 		JBrowse link
G B MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,375,414...2,392,423 JBrowse link
G C Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chrNW_004955481:852,539...866,731
Ensembl chrNW_004955481:852,879...866,643 		JBrowse link
G R Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835 		JBrowse link
G M Mnt max binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr11:74,721,651...74,736,551
Ensembl chr11:74,721,746...74,736,551 		JBrowse link
G H MNT MAX network transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,384,073...2,401,060
Ensembl chr17:2,384,073...2,401,104 		JBrowse link
G N Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G P PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
G S Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G D PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
G B PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994 		JBrowse link
G C Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chrNW_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		JBrowse link
G R Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G M Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G H PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		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 N Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chrNW_004624832:6,849,001...6,858,931
Ensembl chrNW_004624832:6,849,005...6,857,898 		JBrowse link
G G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G P FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G S Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G D FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G B FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G C Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G R Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G M Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G H FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G N Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chrNW_004624758:5,750,804...5,877,797
Ensembl chrNW_004624758:5,792,514...5,877,709 		JBrowse link
G G FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		JBrowse link
G P FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G S Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chrNW_004936559:6,612,318...6,680,690
Ensembl chrNW_004936559:6,619,531...6,670,727
Ensembl chrNW_004936559:6,619,531...6,670,727 		JBrowse link
G D FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G B FKTN fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
G C Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		JBrowse link
G R Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G M Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890 		JBrowse link
G H FKTN fukutin IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G H FKTN-AS1 FKTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 9:105,554,035...105,558,306
Ensembl chr 9:105,554,035...105,558,304 		JBrowse link
G G MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr16:9,834,434...9,860,744 JBrowse link
G P MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
G S Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chrNW_004936595:3,363,974...3,416,849
Ensembl chrNW_004936595:3,363,975...3,388,385 		JBrowse link
G D MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 5:34,781,364...34,808,277
Ensembl chr 5:34,781,367...34,806,850 		JBrowse link
G B MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr17:41,134,861...41,161,226
Ensembl chr17:45,882,261...45,908,467 		JBrowse link
G C Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chrNW_004955467:6,684,104...6,707,597
Ensembl chrNW_004955467:6,685,753...6,707,491 		JBrowse link
G R Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G M Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr11:67,090,922...67,115,401
Ensembl chr11:67,090,878...67,115,401 		JBrowse link
G H MYH1 myosin heavy chain 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr17:10,492,307...10,518,542
Ensembl chr17:10,492,307...10,518,542 		JBrowse link
G M Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,399 		JBrowse link
G H MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,817...10,684,235 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624730:3,645,768...3,648,157
Ensembl chrNW_004624730:3,645,768...3,648,165 		JBrowse link
G 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 chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926 		JBrowse link
G P 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 chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
G S 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 chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400 		JBrowse link
G D 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 chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		JBrowse link
G B 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 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969 		JBrowse link
G C 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 chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900 		JBrowse link
G R 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 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G M 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 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000 		JBrowse link
G H GMPPB GDP-mannose pyrophosphorylase B IAGP 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 A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G H LOC129936764 ATAC-STARR-seq lymphoblastoid active region 19874 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 ClinVar PMID:23768512 PMID:26310427 PMID:28492532 NCBI chr 3:49,723,255...49,723,354 JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004624739:13,580,903...13,615,812
Ensembl chrNW_004624739:13,580,173...13,619,385 		JBrowse link
G G ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr21:41,470,011...41,517,172
Ensembl chr21:41,470,033...41,517,608 		JBrowse link
G P ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,850,646...85,887,450
Ensembl chr 9:85,848,002...85,887,427 		JBrowse link
G S Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004936546:3,124,124...3,159,701
Ensembl chrNW_004936546:3,123,279...3,159,793 		JBrowse link
G D ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr14:31,117,375...31,153,916
Ensembl chr14:31,118,013...31,153,874 		JBrowse link
G B ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359 		JBrowse link
G C Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004955410:19,778,736...19,812,731
Ensembl chrNW_004955410:19,778,736...19,813,150 		JBrowse link
G R Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394 		JBrowse link
G M Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr12:36,207,123...36,247,290
Ensembl chr12:36,207,113...36,247,290 		JBrowse link
G H ANKMY2 ankyrin repeat and MYND domain containing 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:16,599,779...16,645,754
Ensembl chr 7:16,599,779...16,645,817 		JBrowse link
G N Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004624739:13,524,025...13,580,443
Ensembl chrNW_004624739:13,523,030...13,580,636 		JBrowse link
G G BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr21:41,409,358...41,469,833
Ensembl chr21:41,409,364...41,469,662 		JBrowse link
G P BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,887,801...85,947,414
Ensembl chr 9:85,886,158...85,947,410 		JBrowse link
G S Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004936546:3,160,047...3,215,591
Ensembl chrNW_004936546:3,160,004...3,216,331 		JBrowse link
G D BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr14:31,154,285...31,217,193
Ensembl chr14:31,153,659...31,216,911 		JBrowse link
G B BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982 		JBrowse link
G C Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004955410:19,833,008...19,874,647
Ensembl chrNW_004955410:19,833,008...19,878,691 		JBrowse link
G R Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628 		JBrowse link
G M Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr12:36,141,834...36,206,922
Ensembl chr12:36,141,834...36,208,079 		JBrowse link
G H BZW2 basic leucine zipper and W2 domains 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:16,646,181...16,706,517
Ensembl chr 7:16,646,131...16,706,523 		JBrowse link
G N 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:9492098 PMID:9536098 More... NCBI chrNW_004624739:13,813,779...14,114,296
Ensembl chrNW_004624739:13,814,072...14,116,020 		JBrowse link
G 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:9492098 PMID:9536098 More... NCBI chr21:41,691,771...42,008,484
Ensembl chr21:41,691,912...42,010,301 		JBrowse link
G P 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:9492098 PMID:9536098 More... NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G S 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:9492098 PMID:9536098 More... NCBI chrNW_004936546:2,658,195...2,945,542
Ensembl chrNW_004936546:2,657,392...2,945,115 		JBrowse link
G D 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:9492098 PMID:9536098 More... NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604 		JBrowse link
G B 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:9492098 PMID:9536098 More... NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
G C 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:9492098 PMID:9536098 More... NCBI chrNW_004955410:19,359,495...19,614,283
Ensembl chrNW_004955410:19,359,868...19,614,344 		JBrowse link
G R 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:9492098 PMID:9536098 More... NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G M 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:9492098 PMID:9536098 More... NCBI chr12:36,430,334...36,739,502
Ensembl chr12:36,431,449...36,739,502 		JBrowse link
G H CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar
OMIM		 PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:9536098 More... NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G H CRPPA-AS1 CRPPA antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:9492098 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22522420 More... NCBI chr 7:16,210,486...16,270,604
Ensembl chr 7:16,210,484...16,270,604 		JBrowse link
G H LOC129389757 MPRA-validated peak6410 silencer IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:9536098 PMID:17576681 PMID:22522420 PMID:22522421 PMID:24120487 More... NCBI chr 7:16,091,771...16,091,971 JBrowse link
G H LOC129389758 MPRA-validated peak6411 silencer IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:22522420 PMID:23217329 PMID:28492532 NCBI chr 7:16,300,431...16,300,631 JBrowse link
G H LOC129998004 ATAC-STARR-seq lymphoblastoid silent region 17981 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:23390185 PMID:25741868 PMID:28492532 PMID:30564623 More... NCBI chr 7:16,421,129...16,421,188 JBrowse link
G H LOC129998005 ATAC-STARR-seq lymphoblastoid silent region 17982 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:2328832 PMID:18414213 PMID:22522421 PMID:23288328 PMID:23390185 More... NCBI chr 7:16,421,209...16,421,348 JBrowse link
G H LOC129998006 ATAC-STARR-seq lymphoblastoid active region 25669 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:16,645,881...16,646,160 JBrowse link
G N Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004624739:13,617,233...13,715,897
Ensembl chrNW_004624739:13,618,927...13,702,796 		JBrowse link
G G LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr21:41,535,353...41,584,785
Ensembl chr21:41,535,423...41,584,284 		JBrowse link
G P LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,811,382...85,844,726
Ensembl chr 9:85,803,242...85,844,792 		JBrowse link
G S Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004936546:3,067,206...3,120,300
Ensembl chrNW_004936546:3,074,285...3,120,123 		JBrowse link
G D LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr14:31,079,128...31,112,986
Ensembl chr14:31,079,220...31,112,982 		JBrowse link
G B LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320 		JBrowse link
G C Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004955410:19,714,223...19,774,630 JBrowse link
G R Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540 		JBrowse link
G M Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr12:36,258,328...36,306,395
Ensembl chr12:36,258,344...36,303,397 		JBrowse link
G H LRRC72 leucine rich repeat containing 72 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:16,526,825...16,581,568
Ensembl chr 7:16,526,825...16,581,568 		JBrowse link
G N Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004624739:13,767,523...13,771,708
Ensembl chrNW_004624739:13,766,815...13,772,322 		JBrowse link
G G SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr21:41,645,884...41,651,360
Ensembl chr21:41,647,079...41,652,093 		JBrowse link
G P SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 9:85,743,332...85,747,893
Ensembl chr 9:85,743,341...85,747,591 		JBrowse link
G S Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004936546:2,976,045...2,980,487
Ensembl chrNW_004936546:2,975,606...2,980,514 		JBrowse link
G D SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr14:31,035,759...31,079,139
Ensembl chr14:31,022,766...31,026,737
Ensembl chr14:31,022,766...31,026,737 		JBrowse link
G B SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:17,193,531...17,229,769
Ensembl chr 7:16,443,703...16,448,076
Ensembl chr 7:16,443,703...16,448,076 		JBrowse link
G C Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chrNW_004955410:19,657,805...19,662,121
Ensembl chrNW_004955410:19,657,029...19,662,131 		JBrowse link
G R Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579 		JBrowse link
G M Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr12:36,364,168...36,368,451
Ensembl chr12:36,364,138...36,368,451 		JBrowse link
G H SOSTDC1 sclerostin domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 7:16,461,481...16,465,738
Ensembl chr 7:16,461,481...16,530,580 		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 N Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chrNW_004624906:2,120,759...2,131,024
Ensembl chrNW_004624906:2,119,684...2,135,656 		JBrowse link
G G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G P POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G S Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G D POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G B POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G C Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G R Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G M Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G H POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G N Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chrNW_004624906:2,108,324...2,118,571
Ensembl chrNW_004624906:2,113,726...2,119,505 		JBrowse link
G G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr20:86,599,933...86,613,244
Ensembl chr20:86,599,214...86,605,426 		JBrowse link
G P TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G S Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015 		JBrowse link
G D TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
G B TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G C Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
G R Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G M Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G H TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		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 N 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 chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021 		JBrowse link
G 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 1:7,929,712...7,932,034
Ensembl chr 1:7,929,862...7,932,086 		JBrowse link
G P 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 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G S 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 chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719 		JBrowse link
G D 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 chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264 		JBrowse link
G B 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 chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678 		JBrowse link
G C 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 chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		JBrowse link
G R 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 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G M 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 chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		JBrowse link
G H B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G N 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 chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G 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 chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G P 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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G S 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 chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G D 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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G B 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 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G C 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 chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G R 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 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G M 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 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G H DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G N 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 chrNW_004624832:6,849,001...6,858,931
Ensembl chrNW_004624832:6,849,005...6,857,898 		JBrowse link
G 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 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G P 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 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G S 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 chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G D 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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G B 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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G C 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 chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G R 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 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G M 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 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G H FKRP fukutin related protein IAGP 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 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G N Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chrNW_004624758:5,750,804...5,877,797
Ensembl chrNW_004624758:5,792,514...5,877,709 		JBrowse link
G G FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		JBrowse link
G P FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G S Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chrNW_004936559:6,612,318...6,680,690
Ensembl chrNW_004936559:6,619,531...6,670,727
Ensembl chrNW_004936559:6,619,531...6,670,727 		JBrowse link
G D FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G B FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
G C Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		JBrowse link
G R Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G M Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | 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:17597323 More... NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890 		JBrowse link
G H FKTN fukutin IAGP 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 Annotator: match by term: COD-MD syndrome
ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia		 ClinVar PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17597323 More... NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G H FKTN-AS1 FKTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 9:105,554,035...105,558,306
Ensembl chr 9:105,554,035...105,558,304 		JBrowse link
G N 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 chrNW_004624750:1,190,712...1,524,051
Ensembl chrNW_004624750:1,286,336...1,527,159 		JBrowse link
G 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 chr19:16,080,482...16,704,968
Ensembl chr19:16,080,430...16,549,495 		JBrowse link
G P 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
G S 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 chrNW_004936492:6,160,979...6,657,491
Ensembl chrNW_004936492:6,289,517...6,659,465 		JBrowse link
G D 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 chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787 		JBrowse link
G B 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 chr22:14,077,463...14,929,250 JBrowse link
G C 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 chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
G R 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 chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G M 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 chr 8:73,541,227...74,080,164
Ensembl chr 8:73,541,227...74,080,168 		JBrowse link
G H LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G N Pomt1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004624760:4,494,701...4,508,735
Ensembl chrNW_004624760:4,495,254...4,508,616 		JBrowse link
G G POMT1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024 		JBrowse link
G P POMT1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G S Pomt1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004936487:18,249,472...18,267,875
Ensembl chrNW_004936487:18,249,472...18,267,256 		JBrowse link
G D POMT1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G B POMT1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G C Pomt1 protein O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933 		JBrowse link
G R Pomt1 protein-O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G M Pomt1 protein-O-mannosyltransferase 1 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 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		JBrowse link
G H POMT1 protein O-mannosyltransferase 1 IAGP 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 Annotator: match by term: COD-MD syndrome		 ClinVar
OMIM		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G N 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chrNW_004624734:24,595,748...24,636,845
Ensembl chrNW_004624734:24,595,702...24,636,937 		JBrowse link
G 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
G P 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G S 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chrNW_004936488:6,102,612...6,141,842
Ensembl chrNW_004936488:6,102,524...6,141,875 		JBrowse link
G D 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
G B 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G C 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
G R 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G M 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr12:87,153,635...87,194,742
Ensembl chr12:87,153,635...87,194,742 		JBrowse link
G H POMT2 protein O-mannosyltransferase 2 IAGP 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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		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 N Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chrNW_004624802:4,510,164...4,533,305
Ensembl chrNW_004624802:4,509,884...4,533,356 		JBrowse link
G G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr11:59,468,720...59,498,425
Ensembl chr11:59,468,714...59,500,249 		JBrowse link
G P RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273 		JBrowse link
G S Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chrNW_004936545:2,226,238...2,247,971
Ensembl chrNW_004936545:2,226,232...2,247,976 		JBrowse link
G D RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr10:6,630,076...6,648,387 JBrowse link
G B RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872 		JBrowse link
G C Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chrNW_004955458:10,649,364...10,674,913
Ensembl chrNW_004955458:10,648,471...10,676,813 		JBrowse link
G R Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
G M Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr10:121,916,844...121,933,271
Ensembl chr10:121,914,019...121,933,276 		JBrowse link
G H RXYLT1 ribitol xylosyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G H RXYLT1-AS1 RXYLT1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar PMID:23217329 PMID:25741868 PMID:28492532 NCBI chr12:63,808,845...63,822,156
Ensembl chr12:63,804,739...63,822,156 		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 N 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 chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970 		JBrowse link
G 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 chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356 		JBrowse link
G P 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 chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G S 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 chrNW_004936484:17,012,403...17,049,519
Ensembl chrNW_004936484:17,012,537...17,049,511 		JBrowse link
G D 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 chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903 		JBrowse link
G B 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 chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060 		JBrowse link
G C 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 chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G R 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 chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G M B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 More... NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688 		JBrowse link
G H B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP 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 chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G N Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596 		JBrowse link
G G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G P OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G S Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G D OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G B OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358 		JBrowse link
G C Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		JBrowse link
G R Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G M Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G H OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G N 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:25741868 PMID:28492532 NCBI chrNW_004624775:15,067,044...15,132,690
Ensembl chrNW_004624775:15,067,044...15,133,008 		JBrowse link
G 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:25741868 PMID:28492532 NCBI chr25:72,544,942...72,616,716
Ensembl chr25:72,545,012...72,612,622 		JBrowse link
G P 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:25741868 PMID:28492532 NCBI chr14:55,816,663...55,901,215
Ensembl chr14:55,816,668...55,901,171 		JBrowse link
G S 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:25741868 PMID:28492532 NCBI chrNW_004936484:17,048,187...17,097,414
Ensembl chrNW_004936484:17,046,284...17,095,744 		JBrowse link
G D 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:25741868 PMID:28492532 NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357 		JBrowse link
G B 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:25741868 PMID:28492532 NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613 		JBrowse link
G C 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:25741868 PMID:28492532 NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697 		JBrowse link
G R 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:25741868 PMID:28492532 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
G M Tbce tubulin-specific chaperone E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:25741868 PMID:28492532 NCBI chr13:14,172,532...14,214,235
Ensembl chr13:14,172,534...14,214,223 		JBrowse link
G H TBCE tubulin folding cofactor E IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:25741868 PMID:28492532 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443 		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 G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:41,057,798...41,088,210
Ensembl chr 8:41,057,603...41,087,705 		JBrowse link
G P FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684 		JBrowse link
G S Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004936570:362,655...389,649 JBrowse link
G D FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:22,739,070...22,767,942
Ensembl chr16:22,739,079...22,767,914 		JBrowse link
G B FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031 		JBrowse link
G C Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		JBrowse link
G R Fnta farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G M Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,488,716...26,505,638
Ensembl chr 8:26,488,750...26,505,678 		JBrowse link
G H FNTA farnesyltransferase, CAAX box, subunit alpha IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788 		JBrowse link
G N Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004624992:86,403...153,100
Ensembl chrNW_004624992:101,546...153,599 		JBrowse link
G G HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:41,146,280...41,196,192
Ensembl chr 8:41,146,483...41,197,518 		JBrowse link
G S Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762 		JBrowse link
G D HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:22,640,912...22,683,733
Ensembl chr16:22,642,289...22,683,879 		JBrowse link
G B HGSNAT heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,388,406...42,448,466 JBrowse link
G C Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		JBrowse link
G R Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G M Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		JBrowse link
G H HGSNAT heparan-alpha-glucosaminide N-acetyltransferase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,140,464...43,202,855
Ensembl chr 8:43,140,464...43,202,855 		JBrowse link
G N 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 chrNW_004624780:127,718...237,701
Ensembl chrNW_004624780:127,090...235,648 		JBrowse link
G G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:40,897,108...41,023,068
Ensembl chr 8:40,897,209...41,021,808 		JBrowse link
G P HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196 		JBrowse link
G S 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 chrNW_004937108:873...110,949
Ensembl chrNW_004937108:60...110,939 		JBrowse link
G D 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 chr16:22,791,198...22,940,168
Ensembl chr16:22,784,267...22,901,991 		JBrowse link
G B HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043 		JBrowse link
G C 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 chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321 		JBrowse link
G R Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G M Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,511,449...26,609,646
Ensembl chr 8:26,511,449...26,609,252 		JBrowse link
G H HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G P LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:8,644,388...8,665,004 JBrowse link
G H LOC129389983 MPRA-validated peak7007 silencer IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,983,253...42,983,453 JBrowse link
G H LOC130000310 ATAC-STARR-seq lymphoblastoid active region 27319 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,856,975...42,857,084 JBrowse link
G H LOC130000311 ATAC-STARR-seq lymphoblastoid silent region 19160 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,737...42,897,526 JBrowse link
G H LOC130000312 ATAC-STARR-seq lymphoblastoid silent region 19161 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,897,537...42,897,596 JBrowse link
G H LOC130000313 ATAC-STARR-seq lymphoblastoid active region 27320 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,055,952...43,056,141 JBrowse link
G H LOC130000314 ATAC-STARR-seq lymphoblastoid silent region 19162 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,056,272...43,056,841 JBrowse link
G H LOC130000315 ATAC-STARR-seq lymphoblastoid active region 27321 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,090,955...43,091,144 JBrowse link
G H MIR4469 microRNA 4469 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,197...42,896,275
Ensembl chr 8:42,896,197...42,896,275 		JBrowse link
G N 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 chrNW_004624992:196,792...222,638
Ensembl chrNW_004624992:196,645...218,123 		JBrowse link
G 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 chr 8:41,102,872...41,137,866
Ensembl chr 8:41,098,891...41,131,309 		JBrowse link
G P 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 chr17:11,957,615...11,978,919 JBrowse link
G S 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 chrNW_004936570:335,668...354,839
Ensembl chrNW_004936570:331,211...347,631 		JBrowse link
G D 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 chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229 		JBrowse link
G B 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 chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239 		JBrowse link
G C 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 chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
G R 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 chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G M 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 chr 8:26,470,632...26,484,149
Ensembl chr 8:26,470,632...26,484,161 		JBrowse link
G H POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
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		 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G N 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 chrNW_004624780:67,160...127,620
Ensembl chrNW_004624780:66,049...126,383 		JBrowse link
G G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:40,852,995...40,896,800
Ensembl chr 8:40,850,552...40,896,887 		JBrowse link
G P RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049 		JBrowse link
G S 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 chrNW_004937108:111,111...147,077
Ensembl chrNW_004937108:117,881...150,498 		JBrowse link
G D 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 chr16:22,901,224...22,929,990
Ensembl chr16:22,900,313...22,927,125 		JBrowse link
G B RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163 		JBrowse link
G C 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 chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637 		JBrowse link
G R Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		JBrowse link
G M Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,609,396...26,633,903
Ensembl chr 8:26,609,396...26,641,818 		JBrowse link
G H RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G N 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 chrNW_004624780:41,137...57,798
Ensembl chrNW_004624780:39,472...58,138 		JBrowse link
G 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 chr 8:40,833,488...40,840,748
Ensembl chr 8:40,830,790...40,840,462 		JBrowse link
G P THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,149...11,772,620 		JBrowse link
G S 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 chrNW_004937108:157,652...162,015
Ensembl chrNW_004937108:157,578...164,564 		JBrowse link
G D 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 chr16:22,940,257...22,951,453
Ensembl chr16:22,940,216...22,948,582 		JBrowse link
G B 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 chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207 		JBrowse link
G C 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 chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406 		JBrowse link
G R Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
G M Thap1 THAP domain containing, apoptosis associated protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:26,648,197...26,654,179
Ensembl chr 8:26,648,169...26,654,179 		JBrowse link
G H THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		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 N 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021 		JBrowse link
G 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr 1:7,929,712...7,932,034
Ensembl chr 1:7,929,862...7,932,086 		JBrowse link
G P 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G S 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719 		JBrowse link
G D 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264 		JBrowse link
G B 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678 		JBrowse link
G C 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		JBrowse link
G R 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G M 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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		JBrowse link
G H B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:22219654 PMID:23877401 PMID:25558065 More... NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G N Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:19,875,597...19,893,652
Ensembl chrNW_004624767:19,875,535...19,893,694 		JBrowse link
G G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,737,887...7,765,022
Ensembl chr 1:7,737,578...7,764,732 		JBrowse link
G P BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388 		JBrowse link
G S Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299 		JBrowse link
G D BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,816,126...50,835,354 JBrowse link
G B BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274 		JBrowse link
G C Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,825,756...18,843,820
Ensembl chrNW_004955422:18,825,756...18,844,036 		JBrowse link
G R Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G M Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G H BBS1 Bardet-Biedl syndrome 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G N Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:20,036,190...20,043,871
Ensembl chrNW_004624767:20,036,256...20,043,876 		JBrowse link
G G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,932,276...7,940,144
Ensembl chr 1:7,932,316...7,940,143 		JBrowse link
G P BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667 		JBrowse link
G S Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,259,868...3,267,172
Ensembl chrNW_004936599:3,259,835...3,267,676 		JBrowse link
G D BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,967,175...50,974,816
Ensembl chr18:50,967,270...50,974,321 		JBrowse link
G B BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,703,021...61,710,784
Ensembl chr11:65,028,407...65,036,163 		JBrowse link
G C Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,981,984...18,989,730
Ensembl chrNW_004955422:18,982,082...18,989,730 		JBrowse link
G R Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G M Brms1 breast cancer metastasis-suppressor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,091,391...5,099,940
Ensembl chr19:5,091,382...5,099,945 		JBrowse link
G H BRMS1 BRMS1 transcriptional repressor and anoikis regulator IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,337,339...66,345,104
Ensembl chr11:66,337,333...66,345,125 		JBrowse link
G N Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:19,894,386...19,916,996
Ensembl chrNW_004624767:19,894,279...19,916,987 		JBrowse link
G G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,766,110...7,797,152
Ensembl chr 1:7,766,160...7,795,302 		JBrowse link
G P DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,907,251...5,948,019
Ensembl chr 2:5,907,252...5,946,734 		JBrowse link
G S Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,076,909...3,098,012
Ensembl chrNW_004936599:3,076,909...3,097,785 		JBrowse link
G D DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,835,739...50,868,777
Ensembl chr18:50,835,735...50,868,682 		JBrowse link
G B DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,836,463...61,867,303
Ensembl chr11:65,161,892...65,191,398 		JBrowse link
G C Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,844,391...18,865,050
Ensembl chrNW_004955422:18,844,138...18,865,050 		JBrowse link
G R Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G M Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:4,957,257...4,978,315
Ensembl chr19:4,957,257...4,978,315 		JBrowse link
G H DPP3 dipeptidyl peptidase 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,480,434...66,509,657
Ensembl chr11:66,480,013...66,509,657 		JBrowse link
G N Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:19,944,363...19,947,868
Ensembl chrNW_004624767:19,944,370...19,949,053 		JBrowse link
G G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,844,554...7,847,201
Ensembl chr 1:7,844,474...7,847,476 		JBrowse link
G P MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,978,470...5,981,449
Ensembl chr 2:5,978,483...5,981,449 		JBrowse link
G S Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,134,791...3,136,470
Ensembl chrNW_004936599:3,134,607...3,137,448 		JBrowse link
G D MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,890,411...50,893,891
Ensembl chr18:50,890,413...50,893,767 		JBrowse link
G B MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,793,509...61,796,539
Ensembl chr11:65,117,818...65,120,915 		JBrowse link
G C Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,897,202...18,901,896
Ensembl chrNW_004955422:18,897,027...18,903,975 		JBrowse link
G R mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G M Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,012,180...5,017,023
Ensembl chr19:5,012,175...5,017,027 		JBrowse link
G H MRPL11 mitochondrial ribosomal protein L11 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,435,075...66,438,848
Ensembl chr11:66,435,075...66,466,738 		JBrowse link
G N Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:19,953,746...19,959,472
Ensembl chrNW_004624767:19,954,323...19,959,360 		JBrowse link
G G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,856,222...7,874,812
Ensembl chr 1:7,856,939...7,862,052 		JBrowse link
G P NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,990,936...5,995,940
Ensembl chr 2:5,990,327...5,995,929 		JBrowse link
G S Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,144,829...3,150,307
Ensembl chrNW_004936599:3,144,793...3,150,377 		JBrowse link
G D NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,905,614...50,912,119
Ensembl chr18:50,905,611...50,911,086 		JBrowse link
G B NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,778,329...61,784,010
Ensembl chr11:65,103,097...65,108,825 		JBrowse link
G C Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,907,328...18,913,088
Ensembl chrNW_004955422:18,907,322...18,913,428 		JBrowse link
G R Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G M Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,034,381...5,053,467
Ensembl chr19:5,034,383...5,040,344 		JBrowse link
G H NPAS4 neuronal PAS domain protein 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,409,158...66,426,707
Ensembl chr11:66,421,035...66,426,707 		JBrowse link
G N Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:19,920,149...19,938,892
Ensembl chrNW_004624767:19,920,687...19,929,638 		JBrowse link
G G PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,800,430...7,811,226
Ensembl chr 1:7,799,182...7,811,208 		JBrowse link
G P PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:5,950,552...5,959,786
Ensembl chr 2:5,948,849...5,959,734 		JBrowse link
G S Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,099,256...3,110,566
Ensembl chrNW_004936599:3,099,256...3,110,565 		JBrowse link
G D PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,870,483...50,881,089
Ensembl chr18:50,872,426...50,879,826 		JBrowse link
G B PELI3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,824,463...61,834,930
Ensembl chr11:65,148,441...65,159,211 		JBrowse link
G C Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,868,696...18,877,826
Ensembl chrNW_004955422:18,868,696...18,877,438 		JBrowse link
G R Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G M Peli3 pellino 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:4,979,745...4,993,155
Ensembl chr19:4,979,745...4,993,155 		JBrowse link
G H PELI3 pellino E3 ubiquitin protein ligase family member 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,466,327...66,477,337
Ensembl chr11:66,466,327...66,477,337 		JBrowse link
G N Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:20,044,056...20,050,868
Ensembl chrNW_004624767:20,044,820...20,051,764 		JBrowse link
G G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,940,856...7,945,419
Ensembl chr 1:7,941,082...7,945,206 		JBrowse link
G P RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:6,053,875...6,061,051 JBrowse link
G S Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,267,223...3,274,359
Ensembl chrNW_004936599:3,268,122...3,272,444 		JBrowse link
G D RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381 		JBrowse link
G B RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,697,751...61,702,501
Ensembl chr11:65,023,138...65,027,605 		JBrowse link
G C Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,989,814...18,996,570
Ensembl chrNW_004955422:18,990,698...18,997,838 		JBrowse link
G R Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G M Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,100,035...5,107,100
Ensembl chr19:5,100,509...5,107,099 		JBrowse link
G H RIN1 Ras and Rab interactor 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,330,241...66,336,774
Ensembl chr11:66,330,241...66,336,840 		JBrowse link
G N Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004624767:20,011,147...20,020,895
Ensembl chrNW_004624767:20,011,153...20,020,871 		JBrowse link
G G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:7,904,813...7,914,344
Ensembl chr 1:7,905,297...7,917,309 		JBrowse link
G P SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 2:6,027,287...6,036,280
Ensembl chr 2:6,027,287...6,036,280 		JBrowse link
G S Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004936599:3,210,463...3,221,012
Ensembl chrNW_004936599:3,211,939...3,223,348 		JBrowse link
G D SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr18:50,946,647...50,955,085
Ensembl chr18:50,946,724...50,954,413 		JBrowse link
G B SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:61,728,204...61,738,174
Ensembl chr11:65,054,041...65,063,540 		JBrowse link
G C Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chrNW_004955422:18,960,862...18,970,312
Ensembl chrNW_004955422:18,960,862...18,972,676 		JBrowse link
G R Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
G M Slc29a2 solute carrier family 29 (nucleoside transporters), member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr19:5,069,085...5,082,000
Ensembl chr19:5,073,888...5,082,000 		JBrowse link
G H SLC29A2 solute carrier family 29 member 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr11:66,362,521...66,372,446
Ensembl chr11:66,362,521...66,372,214 		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 H LOC130056175 ATAC-STARR-seq lymphoblastoid silent region 5968 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ClinVar PMID:15894594 PMID:25741868 PMID:28492532 NCBI chr14:77,301,192...77,301,251 JBrowse link
G H LOC130056176 ATAC-STARR-seq lymphoblastoid silent region 5969 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ClinVar PMID:28492532 NCBI chr14:77,320,370...77,320,419 JBrowse link
G H LOC130056177 ATAC-STARR-seq lymphoblastoid silent region 5970 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:77,320,650...77,321,029 JBrowse link
G N Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 chrNW_004624734:24,595,748...24,636,845
Ensembl chrNW_004624734:24,595,702...24,636,937 		JBrowse link
G G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
G P POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G S Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 chrNW_004936488:6,102,612...6,141,842
Ensembl chrNW_004936488:6,102,524...6,141,875 		JBrowse link
G D POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
G B POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G C Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
G R Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G M Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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 chr12:87,153,635...87,194,742
Ensembl chr12:87,153,635...87,194,742 		JBrowse link
G H POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 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		 ClinVar
OMIM		 PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		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 N 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004624906:2,120,759...2,131,024
Ensembl chrNW_004624906:2,119,684...2,135,656 		JBrowse link
G 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G P 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G S 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G D 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G B 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G C 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G R 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G M Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: 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 OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G H POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: 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		 OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G N 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004624906:2,108,324...2,118,571
Ensembl chrNW_004624906:2,113,726...2,119,505 		JBrowse link
G 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr20:86,599,933...86,613,244
Ensembl chr20:86,599,214...86,605,426 		JBrowse link
G P 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G S 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015 		JBrowse link
G D 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
G B 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G C 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
G R 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G M 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 Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G H TSPAN1 tetraspanin 1 IAGP 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 A3		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		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 N Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chrNW_004624832:6,849,001...6,858,931
Ensembl chrNW_004624832:6,849,005...6,857,898 		JBrowse link
G G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G P FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G S Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G D FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G B FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G C Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G R Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G M Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G H FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5		 ClinVar
OMIM		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G H LOC130064775 ATAC-STARR-seq lymphoblastoid silent region 10825 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr19:46,745,996...46,746,225 JBrowse link
G N Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chrNW_004624832:6,858,107...6,883,514
Ensembl chrNW_004624832:6,858,123...6,883,514 		JBrowse link
G G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 6:40,073,924...40,100,822
Ensembl chr 6:40,075,007...40,100,885 		JBrowse link
G P STRN4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,938...52,627,902 		JBrowse link
G S Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chrNW_004936664:553,682...574,240
Ensembl chrNW_004936664:553,878...570,732 		JBrowse link
G D STRN4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591 		JBrowse link
G B STRN4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241 		JBrowse link
G C Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chrNW_004955574:752,848...771,664
Ensembl chrNW_004955574:752,848...771,666 		JBrowse link
G R Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
G M Strn4 striatin, calmodulin binding protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 7:16,549,814...16,574,856
Ensembl chr 7:16,549,814...16,574,856 		JBrowse link
G H STRN4 striatin 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr19:46,719,511...46,746,450
Ensembl chr19:46,719,511...46,746,994 		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 N 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chrNW_004624750:1,190,712...1,524,051
Ensembl chrNW_004624750:1,286,336...1,527,159 		JBrowse link
G 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr19:16,080,482...16,704,968
Ensembl chr19:16,080,430...16,549,495 		JBrowse link
G P 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More...
G S 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chrNW_004936492:6,160,979...6,657,491
Ensembl chrNW_004936492:6,289,517...6,659,465 		JBrowse link
G D 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787 		JBrowse link
G B 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr22:14,077,463...14,929,250 JBrowse link
G C 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
G R 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G M 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:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr 8:73,541,227...74,080,164
Ensembl chr 8:73,541,227...74,080,168 		JBrowse link
G H LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ClinVar
OMIM		 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G H LOC130067280 ATAC-STARR-seq lymphoblastoid silent region 13648 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ClinVar NCBI chr22:33,920,004...33,920,103 JBrowse link
G H LOC130067281 ATAC-STARR-seq lymphoblastoid silent region 13649 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 ClinVar NCBI chr22:33,920,374...33,920,523 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 N Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,414,732...76,436,177
Ensembl chrNW_004624730:76,414,626...76,436,156 		JBrowse link
G G ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:5,109,699...5,139,021
Ensembl chr22:5,109,765...5,137,673 		JBrowse link
G P ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:27,006,331...27,053,760
Ensembl chr13:27,006,208...27,056,744 		JBrowse link
G S Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:1,644,758...1,672,024
Ensembl chrNW_004936695:1,644,581...1,672,117 		JBrowse link
G D ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583 		JBrowse link
G B ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,580,752...43,612,637
Ensembl chr 3:44,640,215...44,669,885 		JBrowse link
G C Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,484,500...27,508,360
Ensembl chrNW_004955420:27,482,709...27,508,360 		JBrowse link
G R Abhd5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447 		JBrowse link
G M Abhd5 abhydrolase domain containing 5 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:122,180,681...122,210,589
Ensembl chr 9:122,180,673...122,210,589 		JBrowse link
G H ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,690,870...43,734,371
Ensembl chr 3:43,690,108...43,734,371 		JBrowse link
G N Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,900,112...76,918,805
Ensembl chrNW_004624730:76,901,098...76,902,219 		JBrowse link
G G ACKR2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,272,340...4,313,929
Ensembl chr22:4,312,645...4,313,799 		JBrowse link
G P ACKR2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,291,583...26,329,506
Ensembl chr13:26,288,584...26,329,581 		JBrowse link
G S Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,272,978...2,274,982
Ensembl chrNW_004936695:2,273,797...2,274,951 		JBrowse link
G D ACKR2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,904,020...11,962,291
Ensembl chr23:11,960,981...11,962,135 		JBrowse link
G B ACKR2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,710,724...42,772,396
Ensembl chr 3:43,788,312...43,835,453 		JBrowse link
G C Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,990,786...28,020,203
Ensembl chrNW_004955420:27,992,341...28,011,618 		JBrowse link
G R Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,559,563...121,573,633
Ensembl chr 8:121,561,211...121,573,582 		JBrowse link
G M Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,727,421...121,740,177
Ensembl chr 9:121,727,421...121,740,140 		JBrowse link
G H ACKR2 atypical chemokine receptor 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,809,445...42,867,286
Ensembl chr 3:42,804,752...42,887,974 		JBrowse link
G N Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,500,200...76,650,802
Ensembl chrNW_004624730:76,500,179...76,638,500 		JBrowse link
G G ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,807,612...5,050,437
Ensembl chr22:4,805,218...5,050,158 		JBrowse link
G P ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,734,098...27,006,163
Ensembl chr13:26,734,107...27,006,539 		JBrowse link
G S Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:1,726,380...1,904,399
Ensembl chrNW_004936695:1,726,141...1,900,040 		JBrowse link
G D ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431 		JBrowse link
G B ANO10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,255,858...43,581,466
Ensembl chr 3:44,317,708...44,555,535 		JBrowse link
G C Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,572,561...27,682,099
Ensembl chrNW_004955420:27,572,561...27,696,269 		JBrowse link
G R Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
G M Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:122,004,958...122,123,440
Ensembl chr 9:122,004,940...122,123,489 		JBrowse link
G H ANO10 anoctamin 10 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594 		JBrowse link
G N Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,963,296...76,998,464 JBrowse link
G G CCDC13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,164,828...4,228,692
Ensembl chr22:4,165,416...4,228,483 		JBrowse link
G P CCDC13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,220,622...26,265,699
Ensembl chr13:26,224,333...26,265,700 		JBrowse link
G S Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,350,668...2,404,882
Ensembl chrNW_004936695:2,350,640...2,402,557 		JBrowse link
G D CCDC13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,835,075...11,886,892
Ensembl chr23:11,820,749...11,873,713 		JBrowse link
G B CCDC13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,615,424...42,680,102
Ensembl chr 3:43,679,176...43,743,463 		JBrowse link
G C Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,061,460...28,107,509
Ensembl chrNW_004955420:28,061,449...28,107,309 		JBrowse link
G R Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,455,202...121,507,487
Ensembl chr 8:121,457,697...121,502,337 		JBrowse link
G M Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,626,690...121,668,581
Ensembl chr 9:121,626,693...121,668,527 		JBrowse link
G H CCDC13 coiled-coil domain containing 13 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,704,118...42,773,253
Ensembl chr 3:42,705,756...42,773,253 		JBrowse link
G N Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,310,080...77,314,258
Ensembl chrNW_004624730:77,309,633...77,314,384 		JBrowse link
G G CCK cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956 		JBrowse link
G P CCK cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793 		JBrowse link
G S Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,776,705...2,782,280
Ensembl chrNW_004936695:2,776,831...2,782,061 		JBrowse link
G D CCK cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198 		JBrowse link
G B CCK cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396 		JBrowse link
G C Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458 		JBrowse link
G R Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G M Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760 		JBrowse link
G H CCK cholecystokinin IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185 		JBrowse link
G N Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G P CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311 		JBrowse link
G S Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936473:29,999,542...30,034,610
Ensembl chrNW_004936473:29,999,562...30,038,293 		JBrowse link
G D CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
G B CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G C Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
G R Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G M Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		JBrowse link
G H CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G G CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,323,840...4,326,459
Ensembl chr22:4,324,396...4,325,901 		JBrowse link
G P CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,330,233...26,331,738
Ensembl chr13:26,330,233...26,331,738 		JBrowse link
G D CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846 		JBrowse link
G B CYP8B1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,775,679...42,779,440
Ensembl chr 3:43,824,423...43,842,716 		JBrowse link
G R Cyp8b1 cytochrome P450 family 8 subfamily B member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166 		JBrowse link
G M Cyp8b1 cytochrome P450, family 8, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,743,422...121,745,371
Ensembl chr 9:121,743,422...121,745,371 		JBrowse link
G H CYP8B1 cytochrome P450 family 8 subfamily B member 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,872,192...42,875,879
Ensembl chr 3:42,856,005...42,875,898 		JBrowse link
G N Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,833,237...76,875,323
Ensembl chrNW_004624730:76,833,745...76,873,600 		JBrowse link
G G GASK1A golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,425,802...4,506,027
Ensembl chr22:4,426,912...4,506,776 		JBrowse link
G P GASK1A golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,415,637...26,473,649
Ensembl chr13:26,415,710...26,473,645 		JBrowse link
G S Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,150,547...2,206,931
Ensembl chrNW_004936695:2,150,559...2,206,982 		JBrowse link
G D GASK1A golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:12,019,079...12,085,993
Ensembl chr23:12,034,221...12,085,293 		JBrowse link
G B GASK1A golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 Ensembl chr 3:43,945,071...44,022,902 JBrowse link
G C Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,900,342...27,931,079
Ensembl chrNW_004955420:27,901,885...27,952,998 		JBrowse link
G R Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,610,779...121,643,742
Ensembl chr 8:121,610,787...121,642,942 		JBrowse link
G M Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,780,057...121,817,379
Ensembl chr 9:121,780,054...121,809,275 		JBrowse link
G H GASK1A golgi associated kinase 1A IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,979,311...43,057,715
Ensembl chr 3:42,979,087...43,067,898 		JBrowse link
G N Hhatl hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,000,272...77,006,728
Ensembl chrNW_004624730:77,001,336...77,007,965 		JBrowse link
G G HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,149,375...4,169,760
Ensembl chr22:4,148,531...4,157,265 		JBrowse link
G P HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,209,397...26,219,944
Ensembl chr13:26,206,867...26,222,499 		JBrowse link
G S Hhatl hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,408,829...2,417,726
Ensembl chrNW_004936695:2,408,167...2,418,594 		JBrowse link
G D HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,820,645...11,839,250
Ensembl chr23:11,820,749...11,873,713 		JBrowse link
G B HHATL hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,600,209...42,610,540
Ensembl chr 3:43,664,271...43,674,486 		JBrowse link
G C Hhatl hedgehog acyltransferase like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,110,462...28,117,454
Ensembl chrNW_004955420:28,110,860...28,117,454 		JBrowse link
G R Hhatl hedgehog acyltransferase-like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,447,001...121,454,070
Ensembl chr 8:121,447,002...121,454,001 		JBrowse link
G M Hhatl hedgehog acyltransferase-like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,613,082...121,626,604
Ensembl chr 9:121,613,082...121,621,573 		JBrowse link
G H HHATL hedgehog acyltransferase like IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,692,663...42,702,798
Ensembl chr 3:42,692,663...42,702,824 		JBrowse link
G N Higd1a HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,944,785...76,954,873 JBrowse link
G G HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,239,323...4,255,547 JBrowse link
G P HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,278,202...26,286,334
Ensembl chr13:26,278,208...26,286,202 		JBrowse link
G S Higd1a HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,330,939...2,341,387
Ensembl chrNW_004936695:2,330,465...2,341,681 		JBrowse link
G D HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,893,117...11,903,934 JBrowse link
G B HIGD1A HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,692,771...42,710,654
Ensembl chr 3:43,754,154...43,773,460 		JBrowse link
G C Higd1a HIG1 hypoxia inducible domain family member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,040,320...28,050,723
Ensembl chrNW_004955420:28,045,410...28,049,758 		JBrowse link
G R Higd1a HIG1 hypoxia inducible domain family, member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,514,152...121,523,382
Ensembl chr 8:121,514,156...121,523,443 		JBrowse link
G M Higd1a HIG1 domain family, member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,677,623...121,686,862
Ensembl chr 9:121,677,629...121,687,428 		JBrowse link
G H HIGD1A HIG1 hypoxia inducible domain family member 1A IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,782,908...42,804,490
Ensembl chr 3:42,782,908...42,804,490 		JBrowse link
G N Klhl40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,004,787...77,012,643
Ensembl chrNW_004624730:77,007,063...77,011,413 		JBrowse link
G G KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,141,759...4,149,158
Ensembl chr22:4,142,192...4,148,710 		JBrowse link
G P KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,202,607...26,211,528
Ensembl chr13:26,202,677...26,211,522 		JBrowse link
G S Klhl40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,417,938...2,424,622
Ensembl chrNW_004936695:2,414,573...2,424,702 		JBrowse link
G D KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,812,268...11,820,426
Ensembl chr23:11,813,550...11,820,420 		JBrowse link
G B KLHL40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,592,977...42,600,100
Ensembl chr 3:43,657,128...43,664,055 		JBrowse link
G C Klhl40 kelch like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,117,553...28,122,391
Ensembl chrNW_004955420:28,117,898...28,122,270 		JBrowse link
G R Klhl40 kelch-like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,441,285...121,446,801
Ensembl chr 8:121,441,287...121,446,800 		JBrowse link
G M Klhl40 kelch-like 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,606,673...121,612,885
Ensembl chr 9:121,606,673...121,612,884 		JBrowse link
G H KLHL40 kelch like family member 40 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544 		JBrowse link
G G KRBOX1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,387,219...4,393,454 JBrowse link
G B KRBOX1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,840,198...42,846,633
Ensembl chr 3:43,904,935...43,908,914 		JBrowse link
G C Krbox1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,971,780...27,976,123 JBrowse link
G R Krbox1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,597,254...121,604,048
Ensembl chr 8:121,597,319...121,604,027 		JBrowse link
G H KRBOX1 KRAB box domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,936,386...42,942,792
Ensembl chr 3:42,936,386...42,942,792 		JBrowse link
G H KRBOX1-AS1 KRBOX1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,934,244...42,936,785
Ensembl chr 3:42,934,252...42,936,785 		JBrowse link
G S LOC101977223 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,263,868...2,265,373
Ensembl chrNW_004936695:2,263,868...2,265,373 		JBrowse link
G C LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G S LOC110599009 trafficking kinesin-binding protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936473:30,568,151...30,660,753 JBrowse link
G N Lyzl4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,220,928...77,224,946 JBrowse link
G G LYZL4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:3,803,258...3,855,368 JBrowse link
G P LYZL4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,987,662...25,992,607
Ensembl chr13:25,987,314...25,995,089 		JBrowse link
G S Lyzl4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,668,444...2,674,605
Ensembl chrNW_004936695:2,668,444...2,674,605 		JBrowse link
G D LYZL4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,526,560...11,540,724
Ensembl chr23:11,526,697...11,540,554 		JBrowse link
G B LYZL4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,302,237...42,378,700
Ensembl chr 3:42,565,535...42,579,033 		JBrowse link
G C Lyzl4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,333,984...28,344,180
Ensembl chrNW_004955420:28,336,162...28,344,635 		JBrowse link
G R Lyzl4 lysozyme-like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,248,129...121,255,366
Ensembl chr 8:121,248,168...121,255,353 		JBrowse link
G M Lyzl4 lysozyme-like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,406,907...121,471,187
Ensembl chr 9:121,406,909...121,471,162 		JBrowse link
G H LYZL4 lysozyme like 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,360,764...42,410,610
Ensembl chr 3:42,397,083...42,410,610 		JBrowse link
G N Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,039,359...77,081,204
Ensembl chrNW_004624730:77,041,672...77,081,245 		JBrowse link
G G NKTR natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,055,400...4,104,947
Ensembl chr22:4,056,193...4,102,182 		JBrowse link
G P NKTR natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,125,064...26,176,395
Ensembl chr13:26,125,072...26,174,511 		JBrowse link
G S Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,458,555...2,505,556
Ensembl chrNW_004936695:2,458,377...2,505,360 		JBrowse link
G D NKTR natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,728,841...11,780,306
Ensembl chr23:11,728,994...11,778,626 		JBrowse link
G B NKTR natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,506,135...42,556,343
Ensembl chr 3:43,571,457...43,617,801 		JBrowse link
G C Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,148,040...28,193,734
Ensembl chrNW_004955420:28,150,386...28,193,735 		JBrowse link
G R Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,380,010...121,420,495
Ensembl chr 8:121,382,436...121,418,314 		JBrowse link
G M Nktr natural killer tumor recognition sequence ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,542,244...121,585,908
Ensembl chr 9:121,548,235...121,585,909 		JBrowse link
G H NKTR natural killer cell triggering receptor IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,600,612...42,648,735
Ensembl chr 3:42,600,655...42,648,735 		JBrowse link
G N 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 chrNW_004624730:76,811,200...76,832,299
Ensembl chrNW_004624730:76,818,751...76,832,291 		JBrowse link
G 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 chr22:4,521,925...4,548,431 JBrowse link
G P 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 chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133 		JBrowse link
G S 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 chrNW_004936695:2,117,506...2,141,859
Ensembl chrNW_004936695:2,139,661...2,141,403 		JBrowse link
G D 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 chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214 		JBrowse link
G B 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 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
G C 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 chrNW_004955420:27,884,262...27,899,293
Ensembl chrNW_004955420:27,884,303...27,899,293 		JBrowse link
G R 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 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G M Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by 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 9:121,810,675...121,825,116
Ensembl chr 9:121,810,672...121,826,176 		JBrowse link
G H POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
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 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G N Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,097,879...77,124,284
Ensembl chrNW_004624730:77,102,692...77,120,823 		JBrowse link
G G SEC22C SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:3,995,170...4,029,992
Ensembl chr22:4,000,461...4,029,660 		JBrowse link
G P SEC22C SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,080,934...26,125,120
Ensembl chr13:26,083,226...26,107,223 		JBrowse link
G S Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,525,662...2,568,691
Ensembl chrNW_004936695:2,527,205...2,550,293 		JBrowse link
G D SEC22C SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,679,576...11,708,047
Ensembl chr23:11,684,002...11,706,184 		JBrowse link
G B SEC22C SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,452,946...42,506,666
Ensembl chr 3:42,715,553...42,736,927 		JBrowse link
G C Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,210,912...28,227,015
Ensembl chrNW_004955420:28,210,790...28,230,444 		JBrowse link
G R Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,345,839...121,371,509
Ensembl chr 8:121,350,107...121,370,925 		JBrowse link
G M Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,509,111...121,534,614
Ensembl chr 9:121,509,111...121,534,556 		JBrowse link
G H SEC22C SEC22 homolog C, vesicle trafficking protein IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,547,969...42,601,078
Ensembl chr 3:42,547,969...42,601,080 		JBrowse link
G N Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:76,621,973...76,687,062
Ensembl chrNW_004624730:76,646,846...76,687,263 		JBrowse link
G G SNRK SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,726,981...4,792,618
Ensembl chr22:4,741,622...4,790,037 		JBrowse link
G P SNRK SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,669,208...26,724,466
Ensembl chr13:26,669,257...26,724,458 		JBrowse link
G S Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:1,911,042...1,957,192
Ensembl chrNW_004936695:1,911,027...1,956,494 		JBrowse link
G D SNRK SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:2,909,311...2,966,098
Ensembl chr23:2,909,298...2,965,508 		JBrowse link
G B SNRK SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,179,640...43,244,364
Ensembl chr 3:44,244,453...44,305,648 		JBrowse link
G C Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,710,536...27,754,682
Ensembl chrNW_004955420:27,712,967...27,754,720 		JBrowse link
G R Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,779,704...121,833,949
Ensembl chr 8:121,793,302...121,832,323 		JBrowse link
G M Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,946,332...121,998,768
Ensembl chr 9:121,946,332...121,998,768 		JBrowse link
G H SNRK SNF related kinase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:43,286,540...43,351,143
Ensembl chr 3:43,286,512...43,424,764 		JBrowse link
G N Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,095,297...77,097,711
Ensembl chrNW_004624730:77,095,297...77,097,695 		JBrowse link
G G SS18L2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,038,276...4,046,447 JBrowse link
G P SS18L2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,108,287...26,112,625
Ensembl chr13:26,108,434...26,112,759 		JBrowse link
G S Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,517,840...2,521,504
Ensembl chrNW_004936695:2,517,698...2,521,467 		JBrowse link
G D SS18L2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,713,801...11,717,025
Ensembl chr23:11,713,906...11,716,896 		JBrowse link
G B SS18L2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,487,389...42,500,908
Ensembl chr 3:43,552,858...43,565,681 		JBrowse link
G C Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,203,226...28,205,284
Ensembl chrNW_004955420:28,203,226...28,205,284 		JBrowse link
G R Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,375,263...121,377,877
Ensembl chr 8:121,375,308...121,377,877 		JBrowse link
G M Ss18l2 SS18, nBAF chromatin remodeling complex subunit like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,539,455...121,541,987
Ensembl chr 9:121,539,395...121,542,454 		JBrowse link
G H SS18L2 SS18 like 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,581,840...42,596,934
Ensembl chr 3:42,581,840...42,596,934 		JBrowse link
G N Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,330,449...77,470,156
Ensembl chrNW_004624730:77,331,992...77,399,741 		JBrowse link
G G TRAK1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:3,536,589...3,668,622
Ensembl chr22:3,446,484...3,668,347 		JBrowse link
G P TRAK1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,773,345...25,934,770
Ensembl chr13:25,774,250...25,935,828 		JBrowse link
G D TRAK1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,221,008...11,383,242
Ensembl chr23:11,266,216...11,381,177 		JBrowse link
G B TRAK1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,920,678...42,135,881
Ensembl chr 3:42,262,630...42,399,068 		JBrowse link
G C Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,457,179...28,547,585
Ensembl chrNW_004955420:28,454,812...28,549,489 		JBrowse link
G R Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367 		JBrowse link
G M Trak1 trafficking protein, kinesin binding 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,126,568...121,303,985
Ensembl chr 9:121,126,568...121,303,984 		JBrowse link
G H TRAK1 trafficking kinesin protein 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
G N Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,495,705...77,876,547
Ensembl chrNW_004624730:77,495,747...77,875,622 		JBrowse link
G G ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:2,731,174...3,398,885
Ensembl chr22:2,731,308...3,398,912 		JBrowse link
G P ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:25,207,890...25,751,465
Ensembl chr13:25,209,368...25,751,500 		JBrowse link
G S Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936473:30,034,159...30,536,450
Ensembl chrNW_004936473:30,038,164...30,536,567 		JBrowse link
G D ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:10,578,391...11,176,543
Ensembl chr23:10,578,429...11,176,545 		JBrowse link
G B ULK4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,152,261...41,864,865
Ensembl chr 3:41,568,907...42,121,959 		JBrowse link
G C Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,633,011...29,031,161
Ensembl chrNW_004955420:28,633,726...29,028,025 		JBrowse link
G R Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924 		JBrowse link
G M Ulk4 unc-51-like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:120,793,520...121,115,225
Ensembl chr 9:120,784,417...121,106,263 		JBrowse link
G H ULK4 unc-51 like kinase 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:41,246,599...41,962,103
Ensembl chr 3:41,246,599...41,962,130 		JBrowse link
G N Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,128,547...77,155,531
Ensembl chrNW_004624730:77,128,649...77,153,750 		JBrowse link
G G VIPR1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:3,950,129...3,984,849
Ensembl chr22:3,950,193...3,984,948 		JBrowse link
G P VIPR1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,036,610...26,073,168
Ensembl chr13:26,036,629...26,075,691 		JBrowse link
G S Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,564,917...2,597,009
Ensembl chrNW_004936695:2,564,890...2,607,676 		JBrowse link
G D VIPR1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,635,809...11,666,926
Ensembl chr23:11,635,394...11,666,936 		JBrowse link
G B VIPR1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,407,591...42,442,565
Ensembl chr 3:42,670,195...42,705,170 		JBrowse link
G C Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,234,590...28,253,146
Ensembl chrNW_004955420:28,234,153...28,253,168 		JBrowse link
G R Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585 		JBrowse link
G M Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,471,782...121,502,020
Ensembl chr 9:121,471,782...121,502,020 		JBrowse link
G H VIPR1 vasoactive intestinal peptide receptor 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,489,299...42,537,568
Ensembl chr 3:42,489,299...42,537,573 		JBrowse link
G N Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004624730:77,027,641...77,034,900 JBrowse link
G G ZBTB47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,109,856...4,123,692
Ensembl chr22:4,110,354...4,123,825 		JBrowse link
G P ZBTB47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,181,268...26,195,282
Ensembl chr13:26,182,185...26,198,115 		JBrowse link
G S Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,441,355...2,452,789
Ensembl chrNW_004936695:2,444,185...2,450,045 		JBrowse link
G D ZBTB47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,783,718...11,799,394
Ensembl chr23:11,785,371...11,796,348 		JBrowse link
G B ZBTB47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,560,887...42,573,752
Ensembl chr 3:43,629,405...43,639,232 		JBrowse link
G C Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,134,811...28,141,686
Ensembl chrNW_004955420:28,137,041...28,141,686 		JBrowse link
G R Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,420,758...121,434,365
Ensembl chr 8:121,423,696...121,433,225 		JBrowse link
G M Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 9:121,588,210...121,600,808
Ensembl chr 9:121,588,396...121,600,808 		JBrowse link
G H ZBTB47 zinc finger and BTB domain containing 47 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,652,931...42,667,580
Ensembl chr 3:42,653,697...42,667,580 		JBrowse link
G G ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr22:4,358,215...4,365,977
Ensembl chr22:4,358,715...4,367,759 		JBrowse link
G P ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr13:26,309,983...26,352,554
Ensembl chr13:26,342,004...26,352,548 		JBrowse link
G S Znf662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004936695:2,240,520...2,247,742 JBrowse link
G D ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr23:11,979,768...11,994,226
Ensembl chr23:11,979,740...11,986,393 		JBrowse link
G B ZNF662 zinc finger protein 662 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,809,150...42,823,194
Ensembl chr 3:43,872,164...43,883,699 		JBrowse link
G H ZNF662 zinc finger protein 662 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 3:42,906,142...42,919,334
Ensembl chr 3:42,906,142...42,919,334 		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 N Dag1 dystroglycan 1 ISO 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 chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G G DAG1 dystroglycan 1 ISO 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 chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G P DAG1 dystroglycan 1 ISO 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 chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G S Dag1 dystroglycan 1 ISO 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 chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G D DAG1 dystroglycan 1 ISO 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 chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G B DAG1 dystroglycan 1 ISO 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 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G C Dag1 dystroglycan 1 ISO 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 chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G R Dag1 dystroglycan 1 ISO 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 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G M Dag1 dystroglycan 1 ISO 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 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G H DAG1 dystroglycan 1 IAGP 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 A9 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9		 ClinVar
OMIM		 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 More... NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G G DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G P DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G S Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G D DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G B DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G C Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G R Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G M Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G H DAG1 dystroglycan 1 IEP protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G N 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 chrNW_004624832:6,849,001...6,858,931
Ensembl chrNW_004624832:6,849,005...6,857,898 		JBrowse link
G 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 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G P 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 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G S 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 chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G D 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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G B 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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G C 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 chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G R 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 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G M 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 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G H FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G N Fktn fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chrNW_004624758:5,750,804...5,877,797
Ensembl chrNW_004624758:5,792,514...5,877,709 		JBrowse link
G G FKTN fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		JBrowse link
G P FKTN fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G S Fktn fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chrNW_004936559:6,612,318...6,680,690
Ensembl chrNW_004936559:6,619,531...6,670,727
Ensembl chrNW_004936559:6,619,531...6,670,727 		JBrowse link
G D FKTN fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G B FKTN fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
G C Fktn fukutin ISO 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
ClinVar		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		JBrowse link
G R 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:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... RGD:11537476 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G M Fktn fukutin ISO
IAGP		 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:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... RGD:11537476 NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890 		JBrowse link
G H FKTN fukutin IEP
IAGP
ISS		 ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
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
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related
OMIM:253800
ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... RGD:11537476 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G H FKTN-AS1 FKTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr 9:105,554,035...105,558,306
Ensembl chr 9:105,554,035...105,558,304 		JBrowse link
G G MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr16:9,834,434...9,860,744 JBrowse link
G P MYH1 myosin, heavy chain 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr12:55,225,581...55,251,495
Ensembl chr12:55,225,590...55,249,340 		JBrowse link
G S Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chrNW_004936595:3,363,974...3,416,849
Ensembl chrNW_004936595:3,363,975...3,388,385 		JBrowse link
G D MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr 5:34,781,364...34,808,277
Ensembl chr 5:34,781,367...34,806,850 		JBrowse link
G B MYH1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr17:41,134,861...41,161,226
Ensembl chr17:45,882,261...45,908,467 		JBrowse link
G C Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chrNW_004955467:6,684,104...6,707,597
Ensembl chrNW_004955467:6,685,753...6,707,491 		JBrowse link
G R Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
G M Myh1 myosin, heavy polypeptide 1, skeletal muscle, adult ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr11:67,090,922...67,115,401
Ensembl chr11:67,090,878...67,115,401 		JBrowse link
G H MYH1 myosin heavy chain 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr17:10,492,307...10,518,542
Ensembl chr17:10,492,307...10,518,542 		JBrowse link
G M Myhas myosin heavy chain gene antisense RNA ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,399 		JBrowse link
G H MYHAS myosin heavy chain gene cluster antisense RNA IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr17:10,383,132...10,625,540
Ensembl chr17:10,291,817...10,684,235 		JBrowse link
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637 		JBrowse link
G G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr16:73,456,907...73,459,777 JBrowse link
G P ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G S Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
G D ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G B ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr17:75,965,911...75,968,822
Ensembl chr17:81,668,221...81,671,087 		JBrowse link
G C Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105 		JBrowse link
G R Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G M Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G H ACTG1 actin gamma 1 IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G N Arx aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chrNW_004624897:1,279,138...1,303,210 JBrowse link
G G ARX aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:23,499,791...23,518,333
Ensembl chr  X:23,500,454...23,511,524 		JBrowse link
G P ARX aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G S Arx aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chrNW_004936836:295,090...306,756
Ensembl chrNW_004936836:295,664...306,756 		JBrowse link
G D ARX aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:20,545,346...20,556,206
Ensembl chr  X:20,545,346...20,556,206 		JBrowse link
G B ARX aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:17,598,858...17,612,544 JBrowse link
G C Arx aristaless related homeobox ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chrNW_004955509:5,326,145...5,338,250 JBrowse link
G R Arx aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G M Arx aristaless related homeobox IAGP OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:92,330,113...92,341,963
Ensembl chr  X:92,330,051...92,341,963 		JBrowse link
G H ARX aristaless related homeobox ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G N Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chrNW_004624798:3,164,145...3,223,810
Ensembl chrNW_004624798:3,165,393...3,225,181 		JBrowse link
G G ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977 		JBrowse link
G P ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr10:19,971,516...20,039,680
Ensembl chr10:19,975,192...20,039,623 		JBrowse link
G S Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G D ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr 7:5,591,530...5,663,673
Ensembl chr 7:5,590,957...5,660,919 		JBrowse link
G B ASPM assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr 1:172,674,890...172,737,426
Ensembl chr 1:176,988,297...177,050,810 		JBrowse link
G C Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chrNW_004955406:33,665,675...33,720,468
Ensembl chrNW_004955406:33,661,322...33,720,259 		JBrowse link
G R Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G M Aspm abnormal spindle microtubule assembly ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G H ASPM assembly factor for spindle microtubules IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:19028728 PMID:23611254 PMID:25741868 PMID:28492532 NCBI chr 1:197,084,127...197,146,669
Ensembl chr 1:197,084,121...197,146,694 		JBrowse link
G N Cenpj centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chrNW_004624776:18,163,924...18,245,303
Ensembl chrNW_004624776:18,182,349...18,244,944 		JBrowse link
G G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr 3:4,319,136...4,360,214
Ensembl chr 3:4,319,103...4,360,158 		JBrowse link
G P CENPJ centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr11:289,660...357,920
Ensembl chr11:289,653...355,581 		JBrowse link
G S Cenpj centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chrNW_004936720:2,149,296...2,201,599
Ensembl chrNW_004936720:2,149,302...2,204,139 		JBrowse link
G D CENPJ centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr25:18,555,182...18,611,133
Ensembl chr25:18,557,084...18,610,983 		JBrowse link
G B CENPJ centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G C Cenpj centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chrNW_004955497:432,595...497,335
Ensembl chrNW_004955497:430,461...477,065 		JBrowse link
G R Cenpj centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791 		JBrowse link
G M Cenpj centromere protein J ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr14:56,764,218...56,812,950
Ensembl chr14:56,764,218...56,812,882 		JBrowse link
G H CENPJ centromere protein J IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 More... NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889 		JBrowse link
G N 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 chrNW_004624798:11,482,163...11,592,698
Ensembl chrNW_004624798:11,482,438...11,593,028 		JBrowse link
G 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 chr13:55,203,782...55,420,819
Ensembl chr13:55,225,893...55,420,795 		JBrowse link
G P 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 chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695 		JBrowse link
G S 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 chrNW_004936658:1,351,968...1,490,861
Ensembl chrNW_004936658:1,352,264...1,491,079 		JBrowse link
G D 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 chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054 		JBrowse link
G B 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 chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797 		JBrowse link
G C 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 chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373 		JBrowse link
G R 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 chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G M 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 chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043 		JBrowse link
G H CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Posterior Predominant Lissencephaly
ClinVar Annotator: match by term: Lissencephaly		 ClinVar PMID:12910438 PMID:25741868 PMID:29706646 PMID:32097629 PMID:32097630 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G N Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chrNW_004624749:22,332,750...23,546,165
Ensembl chrNW_004624749:22,333,710...23,412,593 		JBrowse link
G G CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr14:26,579,012...27,729,581
Ensembl chr14:26,578,896...26,836,423 		JBrowse link
G P CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 3:63,205,073...64,417,990
Ensembl chr 3:63,205,084...63,455,471 		JBrowse link
G S Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chrNW_004936556:5,205,481...6,271,304 JBrowse link
G D CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr17:43,472,346...44,504,881
Ensembl chr17:43,472,923...44,557,766 		JBrowse link
G B CTNNA2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr2A:79,594,694...80,745,885
Ensembl chr2A:81,303,559...82,307,258 		JBrowse link
G C Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chrNW_004955424:5,985,170...7,055,830
Ensembl chrNW_004955424:5,986,073...6,911,826 		JBrowse link
G R Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 4:109,294,249...110,443,409
Ensembl chr 4:109,293,978...110,443,522 		JBrowse link
G M Ctnna2 catenin alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 6:76,858,620...77,956,798
Ensembl chr 6:76,858,620...77,956,682 		JBrowse link
G H CTNNA2 catenin alpha 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:30013181 NCBI chr 2:79,185,377...80,648,780
Ensembl chr 2:79,185,231...80,648,861 		JBrowse link
G N Dag1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G G DAG1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G P DAG1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G S Dag1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G D DAG1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G B DAG1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G C Dag1 dystroglycan 1 ISO OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G R Dag1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G M Dag1 dystroglycan 1 IAGP OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G H DAG1 dystroglycan 1 ISS OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191 MouseDO NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G N Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chr  X:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:10369164 PMID:11175293 PMID:18414213 PMID:23365099 PMID:25741868 More... NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R 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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M Dcx doublecortin IAGP
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:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin ISS
IAGP		 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:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G N Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177 		JBrowse link
G G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G P DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More...
G S Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G D DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G B DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475 		JBrowse link
G C Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G R Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G M Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G H DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G N Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chrNW_004624807:9,633,009...9,681,228
Ensembl chrNW_004624807:9,633,281...9,677,260 		JBrowse link
G G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr25:28,379,019...28,434,172
Ensembl chr25:28,379,014...28,434,170 		JBrowse link
G P KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr10:23,444,997...23,491,081
Ensembl chr10:23,445,000...23,491,181 		JBrowse link
G S Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chrNW_004936567:3,346,655...3,394,656
Ensembl chrNW_004936567:3,346,217...3,395,258 		JBrowse link
G D KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr 7:2,185,040...2,231,046
Ensembl chr 7:2,184,733...2,231,058 		JBrowse link
G B KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr 1:176,569,305...176,623,403
Ensembl chr 1:180,872,306...180,925,725 		JBrowse link
G C Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chrNW_004955406:37,139,168...37,187,543
Ensembl chrNW_004955406:37,139,168...37,187,543 		JBrowse link
G R Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr13:47,576,129...47,626,112
Ensembl chr13:47,576,160...47,626,127 		JBrowse link
G M Kif21b kinesin family member 21B ISO ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr 1:136,059,128...136,105,739
Ensembl chr 1:136,059,127...136,105,736 		JBrowse link
G H KIF21B kinesin family member 21B IAGP ClinVar Annotator: match by term: Pachygyria ClinVar PMID:25741868 NCBI chr 1:200,969,390...201,023,714
Ensembl chr 1:200,969,390...201,023,714 		JBrowse link
G N Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624739:21,771,617...21,843,888
Ensembl chrNW_004624739:21,771,226...21,843,884 		JBrowse link
G G LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr21:76,829,287...76,914,348
Ensembl chr21:76,829,443...76,914,324 		JBrowse link
G P LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G S Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936479:16,177,200...16,245,268
Ensembl chrNW_004936479:16,177,158...16,247,165 		JBrowse link
G D LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G B LAMB1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G C Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G R Lamb1 laminin subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G M Lamb1 laminin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:31,315,230...31,379,643
Ensembl chr12:31,315,233...31,379,643 		JBrowse link
G H LAMB1 laminin subunit beta 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G P LOC100155138 tubulin alpha-3 chain ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr14:50,646,616...50,657,344
Ensembl chr14:50,652,053...50,657,350 		JBrowse link
G P LOC100624785 tubulin beta-2A chain ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837 NCBI chr 7:1,910,585...1,914,668
Ensembl chr 7:1,910,269...1,914,761 		JBrowse link
G N LOC101715424 tubulin alpha-1B chain-like ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 More... NCBI chrNW_004624816:3,001,252...3,006,166 JBrowse link
G S LOC101969275 tubulin gamma-1 chain ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chrNW_004936490:17,357,782...17,363,006
Ensembl chrNW_004936490:17,357,608...17,398,008 		JBrowse link
G S LOC101972766 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 More... NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G G LOC103238261 tubulin alpha-1A chain ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 More... NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685 		JBrowse link
G G LOC103243400 tubulin gamma-1 chain ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr16:63,675,056...63,680,596
Ensembl chr16:63,675,253...63,680,571 		JBrowse link
G B LOC112438684 mitotic-spindle organizing protein 2B ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr2B:28,467,686...28,476,354 JBrowse link
G H LOC126860131 MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 IAGP ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr 7:103,660,601...103,661,800 JBrowse link
G H LOC129997071 ATAC-STARR-seq lymphoblastoid silent region 17501 IAGP ClinVar Annotator: match by term: Lissencephaly
ClinVar Annotator: match by term: Posterior Predominant Lissencephaly		 ClinVar PMID:25741868 PMID:32097630 NCBI chr 6:118,650,975...118,651,284 JBrowse link
G D LOC477570 tubulin alpha-3 chain ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr26:30,485,958...30,497,638 JBrowse link
G D LOC478702 tubulin beta-2B chain ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837 NCBI chr35:3,494,982...3,498,274
Ensembl chr35:3,495,277...3,498,248 		JBrowse link
G D LOC610636 tubulin alpha-1B chain ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 More... NCBI chr37:25,811,491...25,818,838 JBrowse link
G N Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chrNW_004624764:21,663,516...22,015,866
Ensembl chrNW_004624764:21,782,162...22,014,676 		JBrowse link
G G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr20:93,413,111...93,814,388 JBrowse link
G P MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 6:94,960,385...95,318,126
Ensembl chr 6:95,153,005...95,301,618 		JBrowse link
G S Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chrNW_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147 		JBrowse link
G D MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325 		JBrowse link
G B MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558 		JBrowse link
G C Macf1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chrNW_004955452:16,684,784...17,025,940
Ensembl chrNW_004955452:16,798,911...17,024,732 		JBrowse link
G R Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905 		JBrowse link
G M Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331 		JBrowse link
G H MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:30471716 NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		JBrowse link
G R Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760 		JBrowse link
G M Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr16:13,977,490...13,977,556
Ensembl chr16:13,977,490...13,977,556 		JBrowse link
G H MIR484 microRNA 484 IAGP ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr16:15,643,294...15,643,372
Ensembl chr16:15,643,294...15,643,372 		JBrowse link
G N 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 chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		JBrowse link
G 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 chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198 		JBrowse link
G P 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 chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G S 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 chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610 		JBrowse link
G D 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 chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		JBrowse link
G B 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... Ensembl chr16:16,007,168...16,091,058 JBrowse link
G C 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 chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G R 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 chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G M Myh11 myosin, heavy polypeptide 11, smooth muscle 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 chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G H MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G G MZT2B mitotic spindle organizing protein 2B ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr10:123,055...131,782 JBrowse link
G S Mzt2b mitotic spindle organizing protein 2B ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chrNW_004936619:2,636,778...2,647,461 JBrowse link
G D MZT2B mitotic spindle organizing protein 2B ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr26:30,420,222...30,427,393 JBrowse link
G C Mzt2b mitotic spindle organizing protein 2B ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chrNW_004955442:19,211,539...19,221,971 JBrowse link
G H MZT2B mitotic spindle organizing protein 2B IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr 2:130,181,654...130,204,793
Ensembl chr 2:130,181,737...130,190,729 		JBrowse link
G N Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chrNW_004624744:2,013,936...2,061,726
Ensembl chrNW_004624744:2,013,922...2,061,708 		JBrowse link
G G NBN nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 8:85,017,807...85,069,219
Ensembl chr 8:85,015,752...85,069,028 		JBrowse link
G P NBN nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 4:46,787,664...46,854,331
Ensembl chr 4:46,787,691...46,874,603 		JBrowse link
G S Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chrNW_004936544:3,773,828...3,812,673
Ensembl chrNW_004936544:3,775,220...3,808,837 		JBrowse link
G D NBN nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563 		JBrowse link
G B NBN nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307 		JBrowse link
G C Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133 		JBrowse link
G R Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150 		JBrowse link
G M Nbn nibrin ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 4:15,955,388...15,992,589
Ensembl chr 4:15,957,925...15,992,589 		JBrowse link
G H NBN nibrin IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G N Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		JBrowse link
G G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr 5:14,670,559...14,720,025
Ensembl chr 5:14,684,215...14,722,192 		JBrowse link
G P NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G S Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
G D NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051 		JBrowse link
G B NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... Ensembl chr16:15,948,881...16,027,986 JBrowse link
G C Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly, Recessive		 ClinVar PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
G R Nde1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly, Recessive
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 chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G M Nde1 nudE neurodevelopment protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly, Recessive
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 chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G H NDE1 nudE neurodevelopment protein 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly, Recessive		 CTD
ClinVar		 PMID:18391202 PMID:24033266 PMID:25741868 PMID:26017485 PMID:26436109 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G N Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G P PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
G S Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G D PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
G B PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994 		JBrowse link
G C Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity ISO DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly		 RGD
ClinVar		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chrNW_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		JBrowse link
G R 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 chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G M Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 severity ISO
IAGP		 DNA:mutations::
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly
CTD Direct Evidence: marker/mechanism
OMIM:300067 | OMIM:300215 | OMIM:607432 | OMIM:611603 | OMIM:614019 | OMIM:615191		 ClinVar
CTD
MouseDO
RGD		 PMID:1115846 PMID:1671808 PMID:9063735 PMID:9147889 PMID:9536098 More... RGD:11073221 NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G H PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 severity IAGP
ISS
EXP		 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 chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G N 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 chrNW_004624906:2,120,759...2,131,024
Ensembl chrNW_004624906:2,119,684...2,135,656 		JBrowse link
G 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 chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G P POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G S 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 chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G D 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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G B 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 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G C 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 chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G R Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G M Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G H POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G N Pomt1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chrNW_004624760:4,494,701...4,508,735
Ensembl chrNW_004624760:4,495,254...4,508,616 		JBrowse link
G G POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024 		JBrowse link
G P POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G S Pomt1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chrNW_004936487:18,249,472...18,267,875
Ensembl chrNW_004936487:18,249,472...18,267,256 		JBrowse link
G D POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G B POMT1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G C Pomt1 protein O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933 		JBrowse link
G R Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G M Pomt1 protein-O-mannosyltransferase 1 ISO DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		JBrowse link
G H POMT1 protein O-mannosyltransferase 1 IAGP DNA:insertions, deletions, missense mutations: :multiple RGD PMID:17559086 RGD:11065022 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G N Pomt2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chrNW_004624734:24,595,748...24,636,845
Ensembl chrNW_004624734:24,595,702...24,636,937 		JBrowse link
G G POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
G P POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G S Pomt2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chrNW_004936488:6,102,612...6,141,842
Ensembl chrNW_004936488:6,102,524...6,141,875 		JBrowse link
G D POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
G B POMT2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G C Pomt2 protein O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
G R Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G M Pomt2 protein-O-mannosyltransferase 2 ISO DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr12:87,153,635...87,194,742
Ensembl chr12:87,153,635...87,194,742 		JBrowse link
G H POMT2 protein O-mannosyltransferase 2 IAGP DNA:missense mutation:exonp.G726R (c.2176G>A) (human) RGD PMID:17559086 RGD:11065022 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G N 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 chrNW_004624739:25,472,626...25,918,064
Ensembl chrNW_004624739:25,472,561...25,918,167 		JBrowse link
G 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 chr21:72,440,988...72,951,173
Ensembl chr21:72,440,160...72,950,747 		JBrowse link
G P 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 9:103,460,855...103,963,728
Ensembl chr 9:103,460,863...103,963,883 		JBrowse link
G S 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 chrNW_004936479:19,628,488...20,088,278
Ensembl chrNW_004936479:19,628,940...20,087,250 		JBrowse link
G D 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 chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875 		JBrowse link
G B 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 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037 		JBrowse link
G C 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 chrNW_004955410:8,424,439...8,863,966
Ensembl chrNW_004955410:8,424,394...8,863,969 		JBrowse link
G R 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 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G M 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 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700 		JBrowse link
G H RELN reelin IAGP ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:23757202 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29671837 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G H SLC26A5-AS1 SLC26A5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar PMID:28492532 NCBI chr 7:103,445,207...103,514,007
Ensembl chr 7:103,445,207...103,514,007 		JBrowse link
G N Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624837:7,139,006...7,205,077
Ensembl chrNW_004624837:7,138,419...7,190,194 		JBrowse link
G G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:83,515,494...83,571,644
Ensembl chr11:83,521,169...83,571,695 		JBrowse link
G P TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:94,328,452...94,384,266
Ensembl chr 5:94,324,091...94,384,154 		JBrowse link
G S Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936507:5,305,489...5,349,828
Ensembl chrNW_004936507:5,305,460...5,352,337 		JBrowse link
G D TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553 		JBrowse link
G B TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630 		JBrowse link
G C Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955405:25,607,134...25,646,050
Ensembl chrNW_004955405:25,606,414...25,646,050 		JBrowse link
G R Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385 		JBrowse link
G M Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:100,279,764...100,323,230
Ensembl chr10:100,279,764...100,323,212 		JBrowse link
G H TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G P TUBA1A tubulin alpha 1a ISO ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18728072 More... NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428 		JBrowse link
G R 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 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G M Tuba1a tubulin, alpha 1A ISO
IAGP		 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 chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
G H TUBA1A tubulin alpha 1a IAGP
ISS		 DNA:missense mutations:cds:c.790C>T(p.R264C), c.1205G>A(p.R402H),c.1204C>T(p.R402C)(human)
ClinVar Annotator: match by term: Lissencephaly
ClinVar Annotator: match by term: Isolated Lissencephaly Sequence
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 chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G R Tuba3a tubulin, alpha 3A ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr 4:158,075,083...158,083,972
Ensembl chr 4:158,075,083...158,083,972 		JBrowse link
G G TUBA3E tubulin alpha 3e ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr10:114,518...122,037
Ensembl chr10:115,094...121,949 		JBrowse link
G H TUBA3E tubulin alpha 3e IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25558065 NCBI chr 2:130,191,745...130,198,439
Ensembl chr 2:130,191,745...130,198,439 		JBrowse link
G N Tubb tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chrNW_004624754:25,001,555...25,005,459
Ensembl chrNW_004624754:25,001,552...25,005,464 		JBrowse link
G G TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr17:41,728,103...41,733,206
Ensembl chr17:41,729,143...41,733,243 		JBrowse link
G P TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,247,850...23,252,233 		JBrowse link
G S Tubb tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chrNW_004936837:380,880...384,752
Ensembl chrNW_004936837:380,879...384,748 		JBrowse link
G D TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr12:512,738...517,154 JBrowse link
G B TUBB tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr 6:30,465,367...30,470,451 JBrowse link
G C Tubb tubulin beta class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chrNW_004955583:704,811...715,742
Ensembl chrNW_004955583:704,750...718,649 		JBrowse link
G H TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G R Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837 NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638 		JBrowse link
G M Tubb2b tubulin, beta 2B class IIB ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837 NCBI chr13:34,310,991...34,314,337
Ensembl chr13:34,310,731...34,314,449 		JBrowse link
G H TUBB2B tubulin beta 2B class IIb IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:11425694 PMID:23001566 PMID:25741868 PMID:29671837 NCBI chr 6:3,224,277...3,227,653
Ensembl chr 6:3,223,324...3,231,730 		JBrowse link
G N Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chrNW_004624746:124,014...130,476 JBrowse link
G S Tubb3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chrNW_004936641:184,736...193,835
Ensembl chrNW_004936641:184,765...193,819 		JBrowse link
G D TUBB3 tubulin beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chr 5:63,681,765...63,690,898
Ensembl chr 5:63,681,752...63,729,684 		JBrowse link
G R Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243 		JBrowse link
G M Tubb3 tubulin, beta 3 class III ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754 		JBrowse link
G H TUBB3 tubulin beta 3 class III IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:29671837 NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761 		JBrowse link
G R Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		JBrowse link
G M Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:29671837 PMID:29706646 NCBI chr17:36,144,812...36,149,193
Ensembl chr17:36,144,813...36,149,198 		JBrowse link
G D TUBG1 tubulin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr 9:20,358,683...20,363,455
Ensembl chr 9:20,322,253...20,363,455 		JBrowse link
G B TUBG1 tubulin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr17:14,701,795...14,707,404
Ensembl chr17:14,925,451...14,931,340 		JBrowse link
G R Tubg1 tubulin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr10:86,052,845...86,059,436
Ensembl chr10:86,052,743...86,059,433 		JBrowse link
G M Tubg1 tubulin, gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr11:101,010,725...101,017,249
Ensembl chr11:101,010,764...101,017,245 		JBrowse link
G H TUBG1 tubulin gamma 1 IAGP ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 PMID:28492532 PMID:29671837 PMID:29706637 PMID:31086189 NCBI chr17:42,609,683...42,615,238
Ensembl chr17:42,609,641...42,615,238 		JBrowse link
lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin IAGP ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G N Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chrNW_004624739:21,771,617...21,843,888
Ensembl chrNW_004624739:21,771,226...21,843,884 		JBrowse link
G G LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr21:76,829,287...76,914,348
Ensembl chr21:76,829,443...76,914,324 		JBrowse link
G P LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G S Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chrNW_004936479:16,177,200...16,245,268
Ensembl chrNW_004936479:16,177,158...16,247,165 		JBrowse link
G D LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G B LAMB1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G C Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G R Lamb1 laminin subunit beta 1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G M Lamb1 laminin B1 ISO ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr12:31,315,230...31,379,643
Ensembl chr12:31,315,233...31,379,643 		JBrowse link
G H LAMB1 laminin subunit beta 1 IAGP ClinVar Annotator: match by term: Classic lissencephaly ClinVar NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
G N 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 chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G 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 chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G P 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 chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
G S 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 chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G D 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 chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
G B 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 chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994 		JBrowse link
G C 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 chrNW_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		JBrowse link
G R 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 chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G M Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, 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 chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G H PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP ClinVar Annotator: match by term: PAFAH1B1-related condition
ClinVar Annotator: match by term: PAFAH1B1-Associated Lissencephaly/Subcortical Band Heterotopia
ClinVar Annotator: match by term: Subcortical band heterotopia		 OMIM
ClinVar		 PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624798:11,482,163...11,592,698
Ensembl chrNW_004624798:11,482,438...11,593,028 		JBrowse link
G G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:55,203,782...55,420,819
Ensembl chr13:55,225,893...55,420,795 		JBrowse link
G P CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695 		JBrowse link
G S Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936658:1,351,968...1,490,861
Ensembl chrNW_004936658:1,352,264...1,491,079 		JBrowse link
G D CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054 		JBrowse link
G B CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:116,270,880...116,461,166
Ensembl chr 6:120,415,944...120,603,797 		JBrowse link
G C Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955436:1,352,481...1,482,061
Ensembl chrNW_004955436:1,393,493...1,465,373 		JBrowse link
G R Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G M Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043 		JBrowse link
G H CEP85L centrosomal protein 85 like IAGP ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID:18241046 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075 		JBrowse link
G H LOC129997071 ATAC-STARR-seq lymphoblastoid silent region 17501 IAGP ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:25741868 PMID:32097630 NCBI chr 6:118,650,975...118,651,284 JBrowse link
G N Pln phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chrNW_004624798:11,522,245...11,528,741
Ensembl chrNW_004624798:11,522,269...11,528,775 		JBrowse link
G G PLN phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr13:55,316,962...55,332,502
Ensembl chr13:55,318,326...55,318,481 		JBrowse link
G P PLN phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr 1:43,449,354...43,458,925
Ensembl chr 1:43,449,354...43,458,925 		JBrowse link
G S Pln phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chrNW_004936658:1,443,626...1,453,770
Ensembl chrNW_004936658:1,443,795...1,453,839 		JBrowse link
G D PLN phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535 		JBrowse link
G B PLN phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr 6:116,357,335...116,370,382
Ensembl chr 6:120,509,510...120,509,668 		JBrowse link
G C Pln phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chrNW_004955436:1,439,098...1,447,070
Ensembl chrNW_004955436:1,439,098...1,447,070 		JBrowse link
G R Pln phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr20:32,629,537...32,639,559 JBrowse link
G M Pln phospholamban ISO ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083 		JBrowse link
G H PLN phospholamban IAGP ClinVar Annotator: match by term: Lissencephaly 10 ClinVar PMID:18241046 PMID:24033266 PMID:28492532 NCBI chr 6:118,548,296...118,561,716
Ensembl chr 6:118,548,296...118,561,716 		JBrowse link
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624786:7,579,061...7,587,608
Ensembl chrNW_004624786:7,579,098...7,587,608 		JBrowse link
G 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 chr16:5,804,774...5,820,793
Ensembl chr16:5,804,948...5,814,566 		JBrowse link
G P 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 chr12:50,903,358...50,917,187
Ensembl chr12:50,903,358...50,917,111 		JBrowse link
G S 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 chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		JBrowse link
G D 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 chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G B 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 chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868 		JBrowse link
G C 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 chrNW_004955467:11,952,940...11,962,147
Ensembl chrNW_004955467:11,952,495...11,962,153 		JBrowse link
G R 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 chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G M 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 chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G H AIPL1 aryl hydrocarbon receptor interacting protein like 1 IAGP ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199 		JBrowse link
G N LOC101715424 tubulin alpha-1B chain-like ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chrNW_004624816:3,001,252...3,006,166 JBrowse link
G S LOC101972766 tubulin alpha-1A chain ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chrNW_004936512:6,959,656...6,964,299
Ensembl chrNW_004936512:6,958,985...6,964,299 		JBrowse link
G G LOC103238261 tubulin alpha-1A chain ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr11:45,419,046...45,423,574
Ensembl chr11:45,418,748...45,423,685 		JBrowse link
G D LOC610636 tubulin alpha-1B chain ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr37:25,811,491...25,818,838 JBrowse link
G N 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 chrNW_004624733:16,881,189...16,884,245
Ensembl chrNW_004624733:16,881,191...16,884,210 		JBrowse link
G 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 chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G P 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 chr16:51,086,014...51,089,165
Ensembl chr16:51,086,011...51,089,162 		JBrowse link
G S 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 chrNW_004936609:2,406,004...2,408,980
Ensembl chrNW_004936609:2,406,004...2,409,046 		JBrowse link
G D 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 chr 4:39,240,755...39,254,585
Ensembl chr 4:39,244,286...39,247,592 		JBrowse link
G B 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 chr 5:168,584,197...168,589,406
Ensembl chr 5:175,492,288...175,495,514 		JBrowse link
G C 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 chrNW_004955408:25,833,649...25,836,673
Ensembl chrNW_004955408:25,832,683...25,836,840 		JBrowse link
G R 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 chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G M 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 chr17:27,057,638...27,063,962
Ensembl chr17:27,057,638...27,063,983 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:18414213 PMID:18976153 PMID:19181906 PMID:19464101 PMID:20981092 More... NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G P TUBA1A tubulin alpha 1a ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria OMIM
ClinVar		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr 5:15,186,059...15,190,211
Ensembl chr 5:15,185,532...15,190,428 		JBrowse link
G R Tuba1a tubulin, alpha 1A ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186 		JBrowse link
G M Tuba1a tubulin, alpha 1A ISO 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: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr15:98,847,728...98,851,382
Ensembl chr15:98,847,718...98,851,584 		JBrowse link
G H TUBA1A tubulin alpha 1a IAGP
EXP		 ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: Tubulinopathies
ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: TUBA1A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17218254 PMID:17584854 PMID:18199681 PMID:18414213 PMID:18669490 More... NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G R Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760 		JBrowse link
G M Mir484 microRNA 484 ISO ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr16:13,977,490...13,977,556
Ensembl chr16:13,977,490...13,977,556 		JBrowse link
G H MIR484 microRNA 484 IAGP ClinVar Annotator: match by term: Lissencephaly 4 ClinVar NCBI chr16:15,643,294...15,643,372
Ensembl chr16:15,643,294...15,643,372 		JBrowse link
G N Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624782:270,183...373,711
Ensembl chrNW_004624782:270,731...354,838 		JBrowse link
G G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:14,723,930...14,879,390
Ensembl chr 5:14,725,504...14,879,198 		JBrowse link
G P MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 3:7,002,667...7,143,093
Ensembl chr 3:7,002,735...7,143,095 		JBrowse link
G S Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936501:3,223,057...3,313,487
Ensembl chrNW_004936501:3,222,300...3,313,610 		JBrowse link
G D MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		JBrowse link
G B MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 Ensembl chr16:16,007,168...16,091,058 JBrowse link
G C Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955442:528,317...644,252
Ensembl chrNW_004955442:528,880...644,264 		JBrowse link
G R Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459 		JBrowse link
G M Myh11 myosin, heavy polypeptide 11, smooth muscle ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:14,012,392...14,109,227
Ensembl chr16:14,012,399...14,109,236 		JBrowse link
G H MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly)		 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G N Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chrNW_004624782:236,715...284,200
Ensembl chrNW_004624782:236,735...268,516 		JBrowse link
G G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr 5:14,670,559...14,720,025
Ensembl chr 5:14,684,215...14,722,192 		JBrowse link
G P NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr 3:7,145,094...7,174,691
Ensembl chr 3:7,125,936...7,180,623 		JBrowse link
G S Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chrNW_004936501:3,193,962...3,234,640
Ensembl chrNW_004936501:3,193,916...3,221,700 		JBrowse link
G D NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051 		JBrowse link
G B NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... Ensembl chr16:15,948,881...16,027,986 JBrowse link
G C Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chrNW_004955442:495,704...530,296
Ensembl chrNW_004955442:495,704...542,976 		JBrowse link
G R Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		JBrowse link
G M Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr16:13,981,139...14,010,792
Ensembl chr16:13,981,139...14,010,792 		JBrowse link
G H NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Lissencephaly 4
ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly)		 ClinVar
OMIM		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624739:21,842,897...21,873,334
Ensembl chrNW_004624739:21,846,733...21,873,700 		JBrowse link
G G DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr21:76,795,573...76,825,504
Ensembl chr21:76,795,592...76,824,923 		JBrowse link
G P DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:107,642,129...107,668,443
Ensembl chr 9:107,642,095...107,673,583 		JBrowse link
G S Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936479:16,247,230...16,271,597
Ensembl chrNW_004936479:16,243,829...16,271,616 		JBrowse link
G D DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:12,703,340...12,734,408
Ensembl chr18:12,703,341...12,734,479 		JBrowse link
G B DLD dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629 		JBrowse link
G C Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955410:12,212,981...12,238,561
Ensembl chrNW_004955410:12,212,963...12,238,561 		JBrowse link
G R Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795 		JBrowse link
G M Dld dihydrolipoamide dehydrogenase ISO ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:31,381,561...31,401,470
Ensembl chr12:31,381,276...31,401,452 		JBrowse link
G H DLD dihydrolipoamide dehydrogenase IAGP ClinVar Annotator: match by term: Lissencephaly 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:107,891,107...107,921,198
Ensembl chr 7:107,891,162...107,931,730 		JBrowse link
G N 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 chrNW_004624739:21,771,617...21,843,888
Ensembl chrNW_004624739:21,771,226...21,843,884 		JBrowse link
G 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 chr21:76,829,287...76,914,348
Ensembl chr21:76,829,443...76,914,324 		JBrowse link
G P 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 9:107,670,120...107,747,242
Ensembl chr 9:107,671,152...107,772,269 		JBrowse link
G S 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 chrNW_004936479:16,177,200...16,245,268
Ensembl chrNW_004936479:16,177,158...16,247,165 		JBrowse link
G D 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 chr18:12,634,640...12,700,311
Ensembl chr18:12,630,554...12,700,308 		JBrowse link
G B 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 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554 		JBrowse link
G C 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 chrNW_004955410:12,241,235...12,305,433
Ensembl chrNW_004955410:12,241,235...12,305,433 		JBrowse link
G R 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 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585 		JBrowse link
G M Lamb1 laminin B1 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 chr12:31,315,230...31,379,643
Ensembl chr12:31,315,233...31,379,643 		JBrowse link
G H LAMB1 laminin subunit beta 1 IAGP ClinVar Annotator: match by term: Lissencephaly 5
ClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: Lissencephaly 5		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23472759 PMID:25326635 More... NCBI chr 7:107,923,799...108,003,161
Ensembl chr 7:107,923,799...108,003,213 		JBrowse link
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624746:28,360,461...28,381,545
Ensembl chrNW_004624746:28,360,730...28,381,673 		JBrowse link
G 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 chr 5:43,666,892...43,688,110
Ensembl chr 5:43,666,940...43,687,807 		JBrowse link
G P 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 chr 6:19,630,355...19,659,039
Ensembl chr 6:19,630,447...19,659,043 		JBrowse link
G S 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 chrNW_004936475:9,737,974...9,757,614
Ensembl chrNW_004936475:9,738,195...9,757,614 		JBrowse link
G D 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 chr 2:58,734,875...58,755,515
Ensembl chr 2:58,734,893...58,755,477 		JBrowse link
G B 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 chr16:38,011,804...38,034,015
Ensembl chr16:57,143,472...57,165,426 		JBrowse link
G C 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 chrNW_004955433:15,345,246...15,365,986
Ensembl chrNW_004955433:15,345,246...15,366,039 		JBrowse link
G R Katnb1 katanin regulatory subunit B1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly		 OMIM
CTD
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650 		JBrowse link
G M Katnb1 katanin p80 (WD40-containing) subunit B 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly		 OMIM
CTD
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr 8:95,807,804...95,826,502
Ensembl chr 8:95,807,814...95,829,777 		JBrowse link
G H KATNB1 katanin regulatory subunit B1 IAGP
EXP		 ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly
ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244 		JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chrNW_004624800:5,562,468...5,566,458
Ensembl chrNW_004624800:5,562,462...5,569,937 		JBrowse link
G G CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chr21:119,235,687...119,240,163 JBrowse link
G P CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chr18:6,166,914...6,171,157 JBrowse link
G S Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chrNW_004936527:6,478,934...6,483,848
Ensembl chrNW_004936527:6,478,982...6,483,866 		JBrowse link
G D CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269 		JBrowse link
G B CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chr 7:142,640,630...142,644,785
Ensembl chr 7:154,793,344...154,797,499 		JBrowse link
G C Cdk5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 NCBI chrNW_004955491:5,491,744...5,497,280
Ensembl chrNW_004955491:5,491,744...5,497,280 		JBrowse link
G R Cdk5 cyclin-dependent kinase 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia		 OMIM
CTD
ClinVar		 PMID:25560765 NCBI chr 4:10,754,682...10,760,110
Ensembl chr 4:10,754,687...10,760,112 		JBrowse link
G M Cdk5 cyclin dependent kinase 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia		 OMIM
CTD
ClinVar		 PMID:25560765 NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528 		JBrowse link
G H CDK5 cyclin dependent kinase 5 IAGP
EXP		 ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25560765 NCBI chr 7:151,053,815...151,057,897
Ensembl chr 7:151,053,815...151,057,897 		JBrowse link
lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chrNW_004624837:7,139,006...7,205,077
Ensembl chrNW_004624837:7,138,419...7,190,194 		JBrowse link
G G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr11:83,515,494...83,571,644
Ensembl chr11:83,521,169...83,571,695 		JBrowse link
G P TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr 5:94,328,452...94,384,266
Ensembl chr 5:94,324,091...94,384,154 		JBrowse link
G S Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chrNW_004936507:5,305,489...5,349,828
Ensembl chrNW_004936507:5,305,460...5,352,337 		JBrowse link
G D TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553 		JBrowse link
G B TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr12:85,683,455...85,741,118
Ensembl chr12:88,989,033...89,046,630 		JBrowse link
G C Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chrNW_004955405:25,607,134...25,646,050
Ensembl chrNW_004955405:25,606,414...25,646,050 		JBrowse link
G R Tmtc3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385 		JBrowse link
G M Tmtc3 transmembrane and tetratricopeptide repeat containing 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr10:100,279,764...100,323,230
Ensembl chr10:100,279,764...100,323,212 		JBrowse link
G H TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP ClinVar Annotator: match by term: Lissencephaly 8 OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		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 H LOC114803468 MACF1 eExon liver enhancer IAGP ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation
ClinVar Annotator: match by term: MACF1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:39,387,391...39,387,887 JBrowse link
G H LOC126805711 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:39824023-39825222 IAGP ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation
ClinVar Annotator: match by term: MACF1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:39,358,351...39,359,550 JBrowse link
G N 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 chrNW_004624764:21,663,516...22,015,866
Ensembl chrNW_004624764:21,782,162...22,014,676 		JBrowse link
G 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 chr20:93,413,111...93,814,388 JBrowse link
G P 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 6:94,960,385...95,318,126
Ensembl chr 6:95,153,005...95,301,618 		JBrowse link
G S 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 chrNW_004936474:21,053,755...21,401,336
Ensembl chrNW_004936474:21,178,791...21,400,147 		JBrowse link
G D 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 chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325 		JBrowse link
G B 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 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558 		JBrowse link
G C 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 chrNW_004955452:16,684,784...17,025,940
Ensembl chrNW_004955452:16,798,911...17,024,732 		JBrowse link
G R 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 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905 		JBrowse link
G M 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 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331 		JBrowse link
G H MACF1 microtubule actin crosslinking factor 1 IAGP ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: MACF1-related condition
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 9 with complex brainstem malformation | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia		 OMIM
ClinVar		 PMID:24507697 PMID:25741868 PMID:28492532 PMID:29706646 PMID:30471716 More... NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177 		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 N Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin IAGP ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 More... NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
microlissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chrNW_004624786:4,429,492...4,440,865
Ensembl chrNW_004624786:4,429,087...4,442,037 		JBrowse link
G G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr16:1,377,135...1,391,404
Ensembl chr16:1,377,669...1,391,404 		JBrowse link
G P WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr12:47,921,818...47,933,782
Ensembl chr12:47,922,012...47,933,778 		JBrowse link
G S Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chrNW_004936538:7,856,263...7,868,249
Ensembl chrNW_004936538:7,856,185...7,868,259 		JBrowse link
G D WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr 9:45,860,200...45,875,439
Ensembl chr 9:45,859,455...45,875,439 		JBrowse link
G B WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr17:1,708,119...1,722,405
Ensembl chr17:1,594,162...1,616,138 		JBrowse link
G C Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chrNW_004955481:1,450,127...1,462,564
Ensembl chrNW_004955481:1,449,350...1,462,555 		JBrowse link
G R Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
G M Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr11:75,331,769...75,345,544
Ensembl chr11:75,331,770...75,345,543 		JBrowse link
G H WDR81 WD repeat domain 81 IAGP ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr17:1,716,523...1,738,585
Ensembl chr17:1,716,523...1,738,599 		JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dph1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chrNW_004624786:4,706,595...4,716,743
Ensembl chrNW_004624786:4,706,592...4,720,405 		JBrowse link
G G DPH1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chr16:1,670,248...1,682,070
Ensembl chr16:1,670,112...1,680,535 		JBrowse link
G P DPH1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chr12:48,146,364...48,157,436
Ensembl chr12:48,146,417...48,161,770 		JBrowse link
G S Dph1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chrNW_004936538:8,100,977...8,110,704
Ensembl chrNW_004936538:8,100,932...8,114,592 		JBrowse link
G D DPH1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chr 9:46,137,573...46,147,829
Ensembl chr 9:46,137,660...46,147,854 		JBrowse link
G B DPH1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chr17:2,020,163...2,035,044
Ensembl chr17:1,908,248...1,923,094 		JBrowse link
G C Dph1 diphthamide biosynthesis 1 ISO OMIM:247200 MouseDO NCBI chrNW_004955481:1,194,428...1,205,231
Ensembl chrNW_004955481:1,194,428...1,205,231 		JBrowse link
G R Dph1 diphthamide biosynthesis 1 ISS OMIM:247200 MouseDO NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850 		JBrowse link
G M Dph1 diphthamide biosynthesis 1 IAGP OMIM:247200 MouseDO NCBI chr11:75,068,469...75,081,309
Ensembl chr11:75,068,469...75,082,067 		JBrowse link
G H DPH1 diphthamide biosynthesis 1 ISS OMIM:247200 MouseDO NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G N Hic1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chrNW_004624786:4,724,806...4,729,714 JBrowse link
G G HIC1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chr16:1,687,560...1,697,888
Ensembl chr16:1,694,341...1,697,023 		JBrowse link
G P HIC1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chr12:48,167,861...48,172,540
Ensembl chr12:48,168,900...48,172,636 		JBrowse link
G S Hic1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chrNW_004936538:8,122,557...8,126,157
Ensembl chrNW_004936538:8,122,749...8,125,306 		JBrowse link
G D HIC1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chr 9:46,156,909...46,162,849
Ensembl chr 9:46,159,136...46,162,004 		JBrowse link
G B HIC1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chr17:2,045,960...2,051,483 JBrowse link
G C Hic1 HIC ZBTB transcriptional repressor 1 ISO OMIM:247200 MouseDO NCBI chrNW_004955481:1,179,015...1,182,936
Ensembl chrNW_004955481:1,179,015...1,181,825 		JBrowse link
G R Hic1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475 		JBrowse link
G M Hic1 hypermethylated in cancer 1 IAGP OMIM:247200 MouseDO NCBI chr11:75,052,203...75,059,970
Ensembl chr11:75,055,391...75,060,345 		JBrowse link
G H HIC1 HIC ZBTB transcriptional repressor 1 ISS OMIM:247200 MouseDO NCBI chr17:2,055,103...2,063,241
Ensembl chr17:2,054,154...2,063,241 		JBrowse link
G N Mnt MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chrNW_004624786:5,039,699...5,057,789
Ensembl chrNW_004624786:5,039,699...5,055,491 		JBrowse link
G G MNT MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chr16:2,015,450...2,032,742
Ensembl chr16:2,014,450...2,033,024 		JBrowse link
G P MNT MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,239...48,486,729 		JBrowse link
G S Mnt MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chrNW_004936538:8,439,548...8,456,021
Ensembl chrNW_004936538:8,439,363...8,456,159 		JBrowse link
G D MNT MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705 		JBrowse link
G B MNT MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chr17:2,375,414...2,392,423 JBrowse link
G C Mnt MAX network transcriptional repressor ISO OMIM:247200 MouseDO NCBI chrNW_004955481:852,539...866,731
Ensembl chrNW_004955481:852,879...866,643 		JBrowse link
G R Mnt MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835 		JBrowse link
G M Mnt max binding protein IAGP OMIM:247200 MouseDO NCBI chr11:74,721,651...74,736,551
Ensembl chr11:74,721,746...74,736,551 		JBrowse link
G H MNT MAX network transcriptional repressor ISS OMIM:247200 MouseDO NCBI chr17:2,384,073...2,401,060
Ensembl chr17:2,384,073...2,401,104 		JBrowse link
G N Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:4,188,143...4,211,712
Ensembl chrNW_004624786:4,188,143...4,211,732 		JBrowse link
G G MYO1C myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr16:1,137,469...1,167,497 JBrowse link
G P MYO1C myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr12:47,691,252...47,715,670
Ensembl chr12:47,691,256...47,718,337 		JBrowse link
G S Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chrNW_004936538:7,614,985...7,639,603
Ensembl chrNW_004936538:7,611,008...7,639,581 		JBrowse link
G D MYO1C myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr 9:45,635,295...45,658,226
Ensembl chr 9:45,636,208...45,658,035 		JBrowse link
G B MYO1C myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr17:1,446,506...1,475,634
Ensembl chr17:1,345,143...1,375,540 		JBrowse link
G C Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chrNW_004955481:1,676,788...1,701,421
Ensembl chrNW_004955481:1,676,728...1,703,488 		JBrowse link
G R Myo1c myosin 1C ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr10:60,498,372...60,520,752
Ensembl chr10:60,498,280...60,520,752 		JBrowse link
G M Myo1c myosin IC ISO ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr11:75,541,345...75,565,450
Ensembl chr11:75,541,330...75,564,736 		JBrowse link
G H MYO1C myosin IC IAGP ClinVar Annotator: match by term: Miller Dieker syndrome ClinVar PMID:25741868 NCBI chr17:1,464,186...1,492,686
Ensembl chr17:1,464,186...1,492,686 		JBrowse link
G N Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G P PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
G S Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G D PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
G B PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994 		JBrowse link
G C Pafah1b1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO OMIM:247200 MouseDO NCBI chrNW_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		JBrowse link
G R Pafah1b1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G M Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 IAGP OMIM:247200 MouseDO NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G H PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISS OMIM:247200 MouseDO NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
G N Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chrNW_004624786:4,080,650...4,135,200
Ensembl chrNW_004624786:4,080,427...4,135,459 		JBrowse link
G G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chr16:1,031,840...1,086,950
Ensembl chr16:1,035,250...1,087,013 		JBrowse link
G P YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chr12:47,601,133...47,645,327
Ensembl chr12:47,600,745...47,645,301 		JBrowse link
G S Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chrNW_004936538:7,518,283...7,558,458
Ensembl chrNW_004936538:7,517,271...7,558,854 		JBrowse link
G D YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chr 9:45,506,830...45,562,081
Ensembl chr 9:45,507,282...45,562,086 		JBrowse link
G B YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chr17:1,332,004...1,387,120
Ensembl chr17:1,229,080...1,285,470 		JBrowse link
G C Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISO OMIM:247200 MouseDO NCBI chrNW_004955481:1,752,778...1,805,700
Ensembl chrNW_004955481:1,752,778...1,808,583 		JBrowse link
G R Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISS OMIM:247200 MouseDO NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589 		JBrowse link
G M Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide IAGP OMIM:247200 MouseDO NCBI chr11:75,620,121...75,656,667
Ensembl chr11:75,623,695...75,656,671 		JBrowse link
G H YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon ISS OMIM:247200 MouseDO NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222 		JBrowse link
Norman-Roberts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004624739:26,018,209...26,045,781
Ensembl chrNW_004624739:26,018,247...26,045,738 		JBrowse link
G G DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr21:72,286,515...72,320,780
Ensembl chr21:72,286,573...72,320,841 		JBrowse link
G P DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 9:103,329,873...103,362,599
Ensembl chr 9:103,329,881...103,362,608 		JBrowse link
G S Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004936479:20,168,991...20,198,440
Ensembl chrNW_004936479:20,169,016...20,198,411 		JBrowse link
G D DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr18:16,866,795...16,894,143
Ensembl chr18:16,887,901...16,893,857 		JBrowse link
G B DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:95,303,823...95,336,085
Ensembl chr 7:108,048,307...108,080,127 		JBrowse link
G C Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004955410:8,317,640...8,338,407
Ensembl chrNW_004955410:8,317,646...8,338,501 		JBrowse link
G R Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,270,239...13,297,438
Ensembl chr 4:13,270,191...13,297,431 		JBrowse link
G M Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 5:21,962,279...21,990,183
Ensembl chr 5:21,962,265...21,990,249 		JBrowse link
G H DNAJC2 DnaJ heat shock protein family (Hsp40) member C2 IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:103,312,289...103,344,767
Ensembl chr 7:103,312,289...103,344,830 		JBrowse link
G H LOC126860130 BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325 IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar Annotator: match by term: RELN-related condition		 ClinVar PMID:9536098 PMID:10973257 PMID:17576681 PMID:23287318 PMID:25741868 More... NCBI chr 7:103,489,679...103,490,878 JBrowse link
G H LOC126860131 MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23757202 PMID:25741868 PMID:26467025 More... NCBI chr 7:103,660,601...103,661,800 JBrowse link
G N Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004624739:26,045,745...26,061,509
Ensembl chrNW_004624739:26,045,982...26,061,465 		JBrowse link
G G PMPCB peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr21:72,271,390...72,286,559
Ensembl chr21:72,271,429...72,286,265 		JBrowse link
G P PMPCB peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 9:103,316,161...103,329,653
Ensembl chr 9:103,316,190...103,330,290 		JBrowse link
G S Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004936479:20,198,417...20,210,160
Ensembl chrNW_004936479:20,198,417...20,210,202 		JBrowse link
G D PMPCB peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr18:16,894,240...16,906,988
Ensembl chr18:16,894,276...16,906,979 		JBrowse link
G B PMPCB peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:95,288,747...95,320,294
Ensembl chr 7:108,033,235...108,050,302 		JBrowse link
G C Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004955410:8,304,088...8,317,639
Ensembl chrNW_004955410:8,303,901...8,317,447 		JBrowse link
G R Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,297,583...13,310,363
Ensembl chr 4:13,297,559...13,310,367 		JBrowse link
G M Pmpcb peptidase (mitochondrial processing) beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 5:21,942,158...21,962,150
Ensembl chr 5:21,942,139...21,962,150 		JBrowse link
G H PMPCB peptidase, mitochondrial processing subunit beta IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:103,297,435...103,347,542
Ensembl chr 7:103,297,407...103,331,818 		JBrowse link
G N Psmc2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004624739:26,001,871...26,015,633
Ensembl chrNW_004624739:26,001,871...26,016,040 		JBrowse link
G G PSMC2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr21:72,323,691...72,341,647
Ensembl chr21:72,323,803...72,341,488 		JBrowse link
G P PSMC2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 9:103,362,684...103,376,048
Ensembl chr 9:103,362,599...103,376,343 		JBrowse link
G S Psmc2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004936479:20,150,738...20,167,765
Ensembl chrNW_004936479:20,148,632...20,168,130 		JBrowse link
G D PSMC2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr18:16,845,593...16,859,010
Ensembl chr18:16,845,594...16,858,911 		JBrowse link
G B PSMC2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:95,338,743...95,359,353
Ensembl chr 7:108,083,203...108,103,494 		JBrowse link
G C Psmc2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004955410:8,341,218...8,355,515
Ensembl chrNW_004955410:8,341,065...8,356,148 		JBrowse link
G R Psmc2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,255,850...13,270,160
Ensembl chr 4:13,255,856...13,270,185 		JBrowse link
G M Psmc2 proteasome (prosome, macropain) 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 5:21,990,273...22,008,785
Ensembl chr 5:21,990,281...22,008,785 		JBrowse link
G H PSMC2 proteasome 26S subunit, ATPase 2 IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:103,347,524...103,369,395
Ensembl chr 7:103,328,570...103,370,346 		JBrowse link
G N Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chrNW_004624739:25,472,626...25,918,064
Ensembl chrNW_004624739:25,472,561...25,918,167 		JBrowse link
G G RELN reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chr21:72,440,988...72,951,173
Ensembl chr21:72,440,160...72,950,747 		JBrowse link
G P RELN reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,863...103,963,883 		JBrowse link
G S Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chrNW_004936479:19,628,488...20,088,278
Ensembl chrNW_004936479:19,628,940...20,087,250 		JBrowse link
G D RELN reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chr18:16,275,822...16,773,875
Ensembl chr18:16,275,837...16,773,875 		JBrowse link
G B RELN reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037 		JBrowse link
G C Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chrNW_004955410:8,424,439...8,863,966
Ensembl chrNW_004955410:8,424,394...8,863,969 		JBrowse link
G R Reln reelin ISO 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 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
G M Reln reelin ISO
IMP		 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 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700 		JBrowse link
G H RELN reelin ISO
IAGP
EXP		 ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... RGD:13207512 NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658 		JBrowse link
G N Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004624739:25,925,835...25,998,410
Ensembl chrNW_004624739:25,930,221...25,995,828 		JBrowse link
G G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr21:72,347,276...72,418,311
Ensembl chr21:72,347,792...72,393,765 		JBrowse link
G P SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730 		JBrowse link
G S Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		JBrowse link
G D SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr18:16,783,795...16,841,946
Ensembl chr18:16,788,759...16,839,940 		JBrowse link
G B SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578 		JBrowse link
G C Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chrNW_004955410:8,358,780...8,414,145
Ensembl chrNW_004955410:8,358,786...8,414,145 		JBrowse link
G R Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G M Slc26a5 solute carrier family 26, member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G H SLC26A5 solute carrier family 26 member 5 IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G H SLC26A5-AS1 SLC26A5 antisense RNA 1 IAGP ClinVar Annotator: match by term: Norman-Roberts syndrome
ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition		 ClinVar PMID:9536098 PMID:10973257 PMID:16199547 PMID:17576681 PMID:23287318 More... NCBI chr 7:103,445,207...103,514,007
Ensembl chr 7:103,445,207...103,514,007 		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 H LOC126861106 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:135106330-135107529 IAGP ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ClinVar PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr10:133,292,826...133,294,025 JBrowse link
G N Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chrNW_004624737:13,436,046...13,459,101 JBrowse link
G G TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr26:53,129,752...53,157,576
Ensembl chr26:53,126,973...53,151,631 		JBrowse link
G P TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr14:141,233,854...141,253,377
Ensembl chr14:141,233,856...141,253,359 		JBrowse link
G S Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chrNW_004936486:19,404,651...19,423,601
Ensembl chrNW_004936486:19,402,526...19,421,976 		JBrowse link
G D TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr28:40,865,742...40,881,105
Ensembl chr28:40,865,748...40,881,119 		JBrowse link
G B TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 Ensembl chr10:134,187,115...134,214,693 JBrowse link
G C Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chrNW_004955477:10,909,213...10,932,833
Ensembl chrNW_004955477:10,907,298...10,932,649 		JBrowse link
G R Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr 1:194,791,113...194,817,807
Ensembl chr 1:194,792,142...194,817,619 		JBrowse link
G M Tubgcp2 tubulin, gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr 7:139,575,868...139,616,587
Ensembl chr 7:139,575,868...139,616,582 		JBrowse link
G H TUBGCP2 tubulin gamma complex component 2 IAGP ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures OMIM
ClinVar		 PMID:25741868 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823 		JBrowse link
Periventricular Laminar Heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chrNW_004624790:6,290,021...6,381,492
Ensembl chrNW_004624790:6,290,881...6,381,461 		JBrowse link
G G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr 2:14,947,347...15,058,217
Ensembl chr 2:14,947,351...15,030,772 		JBrowse link
G P ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr17:50,631,844...50,732,253
Ensembl chr17:50,631,092...50,732,243 		JBrowse link
G S Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chrNW_004936514:5,172,752...5,262,823
Ensembl chrNW_004936514:5,172,584...5,262,836 		JBrowse link
G D ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr24:35,648,650...35,744,815
Ensembl chr24:35,648,431...35,744,584 		JBrowse link
G B ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518 		JBrowse link
G C Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chrNW_004955445:9,069,803...9,153,746
Ensembl chrNW_004955445:9,070,234...9,153,213 		JBrowse link
G R Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856 		JBrowse link
G M Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr 2:166,647,371...166,739,972
Ensembl chr 2:166,647,508...166,739,972 		JBrowse link
G H ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP ClinVar Annotator: match by term: Periventricular laminar heterotopia ClinVar PMID:28492532 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
periventricular nodular heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:421,113...439,961
Ensembl chrNW_004624946:421,132...440,075 		JBrowse link
G G ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,152,697...128,171,007 JBrowse link
G P ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,485,076...124,501,742
Ensembl chr  X:124,485,076...124,501,741 		JBrowse link
G S Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:615,133...634,618
Ensembl chrNW_004936809:615,139...635,990 		JBrowse link
G D ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,545,690...121,564,117
Ensembl chr  X:121,545,586...121,563,186 		JBrowse link
G B ABCD1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,275,165...143,295,283
Ensembl chr  X:153,162,412...153,182,424 		JBrowse link
G C Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G R Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,428,334...151,450,115
Ensembl chr  X:151,428,578...151,450,115 		JBrowse link
G M Abcd1 ATP-binding cassette, sub-family D member 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,760,203...72,782,140
Ensembl chr  X:72,760,203...72,782,140 		JBrowse link
G H ABCD1 ATP binding cassette subfamily D member 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,724,856...153,744,755
Ensembl chr  X:153,724,856...153,744,755 		JBrowse link
G H ARFGEF1-DT ARFGEF1 divergent transcript IAGP ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:67,343,834...67,491,868 JBrowse link
G N Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:543,542...556,865 JBrowse link
G G ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,641,222...124,655,312
Ensembl chr  X:124,641,226...124,655,279 		JBrowse link
G S Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:791,275...807,448
Ensembl chrNW_004936809:791,274...807,450 		JBrowse link
G D ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,754,965...121,772,209
Ensembl chr  X:121,755,221...121,772,541 		JBrowse link
G B ARHGAP4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,462,157...143,481,496
Ensembl chr  X:153,349,050...153,367,709 		JBrowse link
G C Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:586,986...600,299 JBrowse link
G R Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,636,071...151,651,528
Ensembl chr  X:151,632,454...151,651,128 		JBrowse link
G M Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,937,958...72,954,945
Ensembl chr  X:72,935,048...72,965,476 		JBrowse link
G H ARHGAP4 Rho GTPase activating protein 4 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,907,378...153,926,264
Ensembl chr  X:153,907,367...153,934,999 		JBrowse link
G N Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663 		JBrowse link
G G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901 		JBrowse link
G P ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G S Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524 		JBrowse link
G D ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G B ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,068,171...143,133,479
Ensembl chr  X:152,955,109...153,019,445 		JBrowse link
G C Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G R Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G M Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611 		JBrowse link
G H ATP2B3 ATPase plasma membrane Ca2+ transporting 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,517,642...153,582,929
Ensembl chr  X:153,517,642...153,582,939 		JBrowse link
G N Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:885,400...902,082
Ensembl chrNW_004624946:884,685...902,365 		JBrowse link
G G ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,952,532...124,960,344
Ensembl chr  X:124,952,500...124,960,343 		JBrowse link
G S Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,179,507...1,188,172
Ensembl chrNW_004936809:1,179,464...1,188,283 		JBrowse link
G D ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,133,314...122,140,949
Ensembl chr  X:122,133,325...122,140,447 		JBrowse link
G B ATP6AP1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,870,421...143,878,288
Ensembl chr  X:153,740,751...153,748,621 		JBrowse link
G C Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G R Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,079,954...152,087,034
Ensembl chr  X:152,079,865...152,087,034 		JBrowse link
G M Atp6ap1 ATPase, H+ transporting, lysosomal accessory protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,340,753...73,348,297
Ensembl chr  X:73,340,703...73,348,327 		JBrowse link
G H ATP6AP1 ATPase H+ transporting accessory protein 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,428,677...154,436,516
Ensembl chr  X:154,428,633...154,436,516 		JBrowse link
G N Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:541,317...543,397
Ensembl chrNW_004624946:541,362...543,492 		JBrowse link
G G AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,328,728...128,331,482
Ensembl chr  X:128,329,449...128,331,019 		JBrowse link
G P AVPR2 vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,638,433...124,640,969
Ensembl chr  X:124,638,523...124,640,966 		JBrowse link
G S Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:789,337...790,986
Ensembl chrNW_004936809:788,286...790,954 		JBrowse link
G D AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,751,606...121,754,771
Ensembl chr  X:121,752,027...121,754,771 		JBrowse link
G B AVPR2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840 		JBrowse link
G C Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G R Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,633,501...151,636,155
Ensembl chr  X:151,633,522...151,635,989 		JBrowse link
G M Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,935,371...72,938,034
Ensembl chr  X:72,935,708...72,939,108 		JBrowse link
G H AVPR2 arginine vasopressin receptor 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,902,625...153,907,166
Ensembl chr  X:153,902,531...153,907,166 		JBrowse link
G N Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chrNW_004624754:24,559,483...24,571,073
Ensembl chrNW_004624754:24,559,801...24,571,073 		JBrowse link
G G BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318
G P BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr 7:23,756,897...23,768,659
Ensembl chr 7:23,756,899...23,775,892 		JBrowse link
G S Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chrNW_004936727:1,866,235...1,885,266
Ensembl chrNW_004936727:1,873,413...1,885,366 		JBrowse link
G D BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr12:1,126,730...1,141,978
Ensembl chr12:1,126,732...1,137,896 		JBrowse link
G B BAG6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr 6:31,300,126...31,313,829
Ensembl chr 6:32,190,037...32,204,321 		JBrowse link
G C Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chrNW_004955437:176,848...188,243
Ensembl chrNW_004955437:176,797...188,003 		JBrowse link
G R Bag6 BAG cochaperone 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657 		JBrowse link
G M Bag6 BCL2-associated athanogene 6 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr17:35,354,132...35,366,297
Ensembl chr17:35,354,154...35,366,298 		JBrowse link
G H BAG6 BAG cochaperone 6 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:31474318 NCBI chr 6:31,639,028...31,652,661
Ensembl chr 6:31,639,028...31,652,705 		JBrowse link
G N Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:398,901...420,767
Ensembl chrNW_004624946:399,227...419,642 		JBrowse link
G G BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,128,739...128,152,617
Ensembl chr  X:128,128,271...128,151,823 		JBrowse link
G P BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743 		JBrowse link
G S Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G D BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,515,417...121,550,373
Ensembl chr  X:121,507,084...121,545,263 		JBrowse link
G B BCAP31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,265,920...143,274,956
Ensembl chr  X:153,137,992...153,161,628 		JBrowse link
G C Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G R Bcap31 B-cell receptor-associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G M Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		JBrowse link
G H BCAP31 B cell receptor associated protein 31 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,700,492...153,724,387
Ensembl chr  X:153,700,492...153,724,565 		JBrowse link
G N Bgn biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:230,529...241,448
Ensembl chrNW_004624946:230,519...241,850 		JBrowse link
G G BGN biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,926,018...127,940,485
Ensembl chr  X:127,926,009...127,941,164 		JBrowse link
G P BGN biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,282,048...124,295,450
Ensembl chr  X:124,275,305...124,295,445 		JBrowse link
G S Bgn biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:375,589...389,718
Ensembl chrNW_004936809:375,543...389,756 		JBrowse link
G D BGN biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,330,371...121,334,634
Ensembl chr  X:121,330,259...121,334,634 		JBrowse link
G B BGN biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,045,298...143,059,892
Ensembl chr  X:152,931,608...152,946,292 		JBrowse link
G C Bgn biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G R Bgn biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,197,296...151,209,458
Ensembl chr  X:151,197,273...151,209,461 		JBrowse link
G M Bgn biglycan ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,527,207...72,539,542
Ensembl chr  X:72,527,208...72,539,539 		JBrowse link
G H BGN biglycan IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,494,980...153,509,546
Ensembl chr  X:153,494,980...153,509,546 		JBrowse link
G N Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:142,987...212,190
Ensembl chrNW_004624963:145,580...212,064 		JBrowse link
G G BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,358,759...129,406,293
Ensembl chr  X:129,358,862...129,403,352 		JBrowse link
G P BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,383,392...125,439,082
Ensembl chr  X:125,383,414...125,439,082 		JBrowse link
G S Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:341,114...380,817
Ensembl chrNW_004936927:341,253...376,700 		JBrowse link
G D BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,081,262...123,143,509
Ensembl chr  X:123,081,050...123,140,133 		JBrowse link
G B BRCC3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,550,320...144,592,795
Ensembl chr  X:154,389,283...154,428,669 		JBrowse link
G C Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G R Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr 9:1,986,942...1,989,484
Ensembl chr 9:1,986,575...1,991,080 		JBrowse link
G M Brcc3 BRCA1/BRCA2-containing complex, subunit 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,460,234...74,499,307
Ensembl chr  X:74,460,234...74,497,607 		JBrowse link
G H BRCC3 BRCA1/BRCA2-containing complex subunit 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,071,508...155,123,077
Ensembl chr  X:155,071,420...155,123,077 		JBrowse link
G N Ccnq cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:311,291...322,546
Ensembl chrNW_004624946:311,594...322,530 		JBrowse link
G G CCNQ cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,018,651...128,030,122
Ensembl chr  X:128,019,090...128,030,083 		JBrowse link
G P CCNQ cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,361,003...124,370,072
Ensembl chr  X:124,361,006...124,369,867 		JBrowse link
G S Ccnq cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:471,619...482,296
Ensembl chrNW_004936809:472,061...482,192 		JBrowse link
G D CCNQ cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,409,169...121,418,666
Ensembl chr  X:121,409,625...121,418,395 		JBrowse link
G B CCNQ cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,138,574...143,149,824 JBrowse link
G C Ccnq cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G R Ccnq cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr10:63,646,532...63,647,695
Ensembl chr10:63,646,527...63,647,961 		JBrowse link
G M Ccnq cyclin Q ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr11:78,641,332...78,642,555
Ensembl chr11:78,641,332...78,642,555 		JBrowse link
G H CCNQ cyclin Q IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,587,925...153,599,139
Ensembl chr  X:153,587,925...153,600,045 		JBrowse link
G N Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:21,115...47,757 JBrowse link
G G CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,564,187...129,606,324
Ensembl chr  X:129,560,658...129,606,438 		JBrowse link
G P CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,546,451...125,560,059
Ensembl chr  X:125,546,467...125,570,523 		JBrowse link
G S Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:514,989...543,691
Ensembl chrNW_004936927:514,899...543,693 		JBrowse link
G D CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,268,867...123,291,467
Ensembl chr  X:123,268,867...123,291,467 		JBrowse link
G B CLIC2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,742,839...144,851,524
Ensembl chr  X:154,581,649...154,641,515 		JBrowse link
G C Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G R Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:149,337...164,375
Ensembl chr20:148,907...164,355 		JBrowse link
G H CLIC2 chloride intracellular channel 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,276,211...155,334,614
Ensembl chr  X:155,276,211...155,334,657 		JBrowse link
G N Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:212,470...221,697
Ensembl chrNW_004624963:212,030...221,697 		JBrowse link
G G CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,348,831...129,358,601
Ensembl chr  X:129,349,054...129,351,326 		JBrowse link
G P CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,383,272
Ensembl chr  X:125,372,941...125,376,999 		JBrowse link
G S Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:317,417...341,016
Ensembl chrNW_004936927:320,833...341,021 		JBrowse link
G D CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,071,076...123,080,799 JBrowse link
G B CMC4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,540,603...144,550,152
Ensembl chr  X:154,379,485...154,388,932 		JBrowse link
G C Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G R Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:125,308...132,163
Ensembl chr18:125,227...132,160 		JBrowse link
G M Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,448,452...74,460,190
Ensembl chr  X:74,448,452...74,460,190 		JBrowse link
G H CMC4 C-X9-C motif containing 4 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,061,622...155,071,136
Ensembl chr  X:155,061,622...155,071,136 		JBrowse link
G N Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chrNW_004624744:23,478,907...23,928,024
Ensembl chrNW_004624744:23,478,907...23,927,318 		JBrowse link
G G CPA6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:63,281,059...63,590,016
Ensembl chr 8:63,281,180...63,374,824 		JBrowse link
G P CPA6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 4:67,157,341...67,411,582
Ensembl chr 4:67,158,318...67,411,593 		JBrowse link
G S Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chrNW_004936496:6,484,438...6,761,816
Ensembl chrNW_004936496:6,484,438...6,761,816 		JBrowse link
G D CPA6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr29:16,914,623...17,243,875
Ensembl chr29:16,914,985...17,244,350 		JBrowse link
G B CPA6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:63,962,991...64,285,840
Ensembl chr 8:65,624,306...65,946,848 		JBrowse link
G C Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chrNW_004955444:11,624,842...11,922,293
Ensembl chrNW_004955444:11,624,806...11,921,509 		JBrowse link
G R Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485 		JBrowse link
G M Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 1:10,366,016...10,790,277
Ensembl chr 1:10,394,945...10,790,170 		JBrowse link
G H CPA6 carboxypeptidase A6 IAGP ClinVar Annotator: match by term: Periventricular heterotopia ClinVar PMID:21922598 PMID:23105115 PMID:25741868 PMID:26467025 PMID:26648591 More... NCBI chr 8:67,422,038...67,746,360
Ensembl chr 8:67,422,038...67,746,378 		JBrowse link
G G CTAG1A cancer/testis antigen 1A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,825,269...128,827,442
Ensembl chr  X:128,825,844...128,827,287 		JBrowse link
G H CTAG1A cancer/testis antigen 1A IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,585,133...154,586,816
Ensembl chr  X:154,585,133...154,586,816 		JBrowse link
G H CTAG1B cancer/testis antigen 1B IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,617,609...154,619,282
Ensembl chr  X:154,617,609...154,619,282 		JBrowse link
G R Ctag2 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,531,907...143,533,201
Ensembl chr  X:143,531,907...143,533,201 		JBrowse link
G H CTAG2 cancer/testis antigen 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,651,977...154,653,579
Ensembl chr  X:154,651,972...154,653,579 		JBrowse link
G M Ctag2l2 CTAG2 like 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,784,533...73,785,794
Ensembl chr  X:73,784,533...73,785,794 		JBrowse link
G N Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:468,673...479,317
Ensembl chrNW_004624963:469,408...479,207 		JBrowse link
G G DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,015,883...129,029,741
Ensembl chr  X:129,016,046...129,030,001 		JBrowse link
G P DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,218,928...125,228,881
Ensembl chr  X:125,218,923...125,229,525 		JBrowse link
G S Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:134,770...144,057 JBrowse link
G D DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,838,787...122,850,870
Ensembl chr  X:122,838,645...122,850,884 		JBrowse link
G B DKC1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,243,493...144,257,419
Ensembl chr  X:154,084,412...154,098,475 		JBrowse link
G C Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G R Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G M Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
G H DKC1 dyskerin pseudouridine synthase 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G N Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:858,638...869,859
Ensembl chrNW_004624946:864,657...870,396 		JBrowse link
G G DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,931,410...124,937,569
Ensembl chr  X:124,931,410...124,939,965 		JBrowse link
G S Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,151,312...1,159,017
Ensembl chrNW_004936809:1,151,202...1,159,029 		JBrowse link
G D DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,101,992...122,109,240
Ensembl chr  X:122,101,992...122,109,165 		JBrowse link
G B DNASE1L1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,842,920...143,851,795
Ensembl chr  X:153,712,054...153,725,868 		JBrowse link
G C Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G R Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,056,942...152,065,518
Ensembl chr  X:152,056,942...152,065,518 		JBrowse link
G M Dnase1l1 deoxyribonuclease 1-like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,316,823...73,325,939
Ensembl chr  X:73,316,823...73,325,943 		JBrowse link
G H DNASE1L1 deoxyribonuclease 1 like 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,401,236...154,412,101
Ensembl chr  X:154,401,236...154,412,112 		JBrowse link
G N Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:359,273...366,310
Ensembl chrNW_004624946:359,377...366,308 		JBrowse link
G G DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,073,548...128,083,169
Ensembl chr  X:128,079,403...128,083,212 		JBrowse link
G P DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,404,852...124,414,246
Ensembl chr  X:124,409,289...124,414,212 		JBrowse link
G S Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:535,434...538,219
Ensembl chrNW_004936809:535,434...539,319 		JBrowse link
G D DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,460,116...121,472,605
Ensembl chr  X:121,460,895...121,472,608 		JBrowse link
G B DUSP9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,192,599...143,201,647
Ensembl chr  X:153,084,555...153,088,208 		JBrowse link
G C Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G R Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,351,897...151,355,822
Ensembl chr  X:151,351,897...151,355,821 		JBrowse link
G M Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,682,995...72,687,120
Ensembl chr  X:72,683,025...72,687,120 		JBrowse link
G H DUSP9 dual specificity phosphatase 9 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,642,441...153,651,326
Ensembl chr  X:153,642,492...153,651,326 		JBrowse link
G N Emd emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:805,573...808,001
Ensembl chrNW_004624946:801,639...808,162 		JBrowse link
G G EMD emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,689,588...128,692,105
Ensembl chr  X:128,689,588...128,692,625 		JBrowse link
G P EMD emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,883,047...124,885,429
Ensembl chr  X:124,883,049...124,885,432 		JBrowse link
G S Emd emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G D EMD emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,050,309...122,052,629
Ensembl chr  X:122,050,455...122,052,524 		JBrowse link
G B EMD emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,792,178...143,794,530 JBrowse link
G C Emd emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G R Emd emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,038,990...152,042,190
Ensembl chr  X:152,038,998...152,045,807 		JBrowse link
G M Emd emerin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,298,297...73,305,188
Ensembl chr  X:73,298,293...73,305,154 		JBrowse link
G H EMD emerin IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G N Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624850:5,683,191...5,709,015
Ensembl chrNW_004624850:5,684,312...5,709,584 		JBrowse link
G G ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:97,558,822...97,592,030 JBrowse link
G P ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:513,364...540,948
Ensembl chr 1:512,678...540,896 		JBrowse link
G S Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936489:18,201,790...18,244,810
Ensembl chrNW_004936489:18,203,204...18,236,552 		JBrowse link
G D ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:71,998,431...72,024,726
Ensembl chr12:71,998,437...72,023,512 		JBrowse link
G B ERMARD ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822 		JBrowse link
G C Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955411:3,838,125...3,866,282
Ensembl chrNW_004955411:3,835,751...3,865,321 		JBrowse link
G R Ermard ER membrane-associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687 		JBrowse link
G M Ermard ER membrane associated RNA degradation ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:15,261,825...15,310,307
Ensembl chr17:15,261,470...15,310,306 		JBrowse link
G H ERMARD ER membrane associated RNA degradation EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
G N F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:252,943...424,718 JBrowse link
G G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,090,140...129,315,343
Ensembl chr  X:129,088,611...129,312,909 		JBrowse link
G P F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,265,330...125,350,853
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G S F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:189,359...301,791
Ensembl chrNW_004936927:190,111...301,609 		JBrowse link
G D F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414 		JBrowse link
G B F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,316,192...144,505,773
Ensembl chr  X:154,156,873...154,341,317 		JBrowse link
G C F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G R F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857 		JBrowse link
G M F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,213,950...74,426,342
Ensembl chr  X:74,216,321...74,426,221 		JBrowse link
G H F8 coagulation factor VIII IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,835,792...155,022,723
Ensembl chr  X:154,835,788...155,026,940 		JBrowse link
G M F8a factor 8-associated gene A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,271,912...72,274,401
Ensembl chr  X:72,271,897...72,274,401 		JBrowse link
G G F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,131,267...129,133,575 JBrowse link
G P F8A1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,280,978...125,282,771 JBrowse link
G S F8a1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:234,162...236,881 JBrowse link
G D F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,914,362...122,916,199 JBrowse link
G B F8A1 coagulation factor VIII associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,366,123...144,367,842 JBrowse link
G R F8a1 coagulation factor VIII-associated 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,957,357...150,958,871
Ensembl chr  X:150,916,679...150,960,168 		JBrowse link
G H F8A1 coagulation factor VIII associated 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,886,355...154,888,061
Ensembl chr  X:154,886,355...154,888,061 		JBrowse link
G H F8A2 coagulation factor VIII associated 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,382,095...155,383,801
Ensembl chr  X:155,382,095...155,383,801 		JBrowse link
G B F8A3 coagulation factor VIII associated 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,925,422...144,927,166 JBrowse link
G H F8A3 coagulation factor VIII associated 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,456,914...155,458,620
Ensembl chr  X:155,456,914...155,458,620 		JBrowse link
G N Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:974,903...981,798
Ensembl chrNW_004624946:972,676...982,049 		JBrowse link
G G FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,744,577...128,759,246
Ensembl chr  X:128,744,458...128,759,202 		JBrowse link
G P FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,015,985...125,025,119
Ensembl chr  X:125,014,714...125,025,104 		JBrowse link
G S Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,248,865...1,258,894
Ensembl chrNW_004936809:1,249,823...1,258,860 		JBrowse link
G D FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,205,043...122,212,626
Ensembl chr  X:122,205,683...122,212,195 		JBrowse link
G B FAM3A FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,947,867...143,957,966
Ensembl chr  X:153,817,983...153,828,152 		JBrowse link
G C Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G R Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,166,716...152,175,327
Ensembl chr  X:152,165,535...152,175,362 		JBrowse link
G M Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,427,816...73,436,856
Ensembl chr  X:73,428,325...73,436,878 		JBrowse link
G H FAM3A FAM3 metabolism regulating signaling molecule A IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,506,171...154,516,232
Ensembl chr  X:154,506,159...154,516,242 		JBrowse link
G N Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:909,398...918,972
Ensembl chrNW_004624946:909,401...919,088 		JBrowse link
G G FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,967,821...124,973,487
Ensembl chr  X:124,967,510...124,973,483 		JBrowse link
G S Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,195,479...1,202,126 JBrowse link
G D FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,148,234...122,158,172
Ensembl chr  X:122,148,282...122,154,807 		JBrowse link
G B FAM50A family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,885,931...143,892,435 JBrowse link
G C Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:941,620...947,763 JBrowse link
G R Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,095,245...152,102,362
Ensembl chr  X:152,095,245...152,102,362 		JBrowse link
G M Fam50a family with sequence similarity 50, member A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,356,589...73,363,761
Ensembl chr  X:73,356,639...73,363,755 		JBrowse link
G H FAM50A family with sequence similarity 50 member A IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G N Flna filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G G FLNA filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G P FLNA filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G S Flna filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G D FLNA filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G B FLNA filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G C Flna filamin A ISO 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1		 OMIM
ClinVar		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G R 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: 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
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
DNA:deletion:cds:c.7941_7942delCT (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G M Flna filamin, alpha ISO
IAGP		 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: 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, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
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:8290091 PMID:9071288 More... RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G H FLNA filamin A IAGP
ISS
EXP
ISO		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | 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: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1
OMIM:300049 | OMIM:608097 | OMIM:608098 | OMIM:612881 | OMIM:615544
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
DNA:deletion:cds:c.7941_7942delCT (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3265608 PMID:3658675 PMID:6019437 PMID:8290091 PMID:9071288 More... RGD:1598953, RGD:11565137, RGD:11565112, RGD:11564351 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G N Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:223,145...250,841
Ensembl chrNW_004624963:226,564...251,113 		JBrowse link
G G FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,315,315...129,342,395
Ensembl chr  X:129,315,465...129,342,193 		JBrowse link
G P FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,354,032...125,366,029
Ensembl chr  X:125,354,021...125,372,610 		JBrowse link
G S Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:304,162...318,271
Ensembl chrNW_004936927:304,197...318,271 		JBrowse link
G D FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,046,451...123,064,580
Ensembl chr  X:123,045,954...123,064,580 		JBrowse link
G B FUNDC2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,505,703...144,534,871
Ensembl chr  X:154,345,251...154,374,743 		JBrowse link
G C Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G R Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:128,473...138,232
Ensembl chr18:132,248...138,345 		JBrowse link
G M Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,426,005...74,440,764
Ensembl chr  X:74,426,005...74,440,065 		JBrowse link
G H FUNDC2 FUN14 domain containing 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,026,844...155,060,304
Ensembl chr  X:155,025,980...155,060,304 		JBrowse link
G N G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:989,376...1,001,787
Ensembl chrNW_004624946:986,107...1,001,955 		JBrowse link
G G G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,768,028...128,788,366
Ensembl chr  X:128,770,268...128,786,961 		JBrowse link
G P G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,029,147...125,041,040
Ensembl chr  X:125,029,150...125,041,040 		JBrowse link
G S G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,269,900...1,285,853
Ensembl chrNW_004936809:1,269,914...1,285,889 		JBrowse link
G D G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,217,317...122,231,862
Ensembl chr  X:122,205,683...122,231,678 		JBrowse link
G B G6PD glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,972,798...143,988,960
Ensembl chr  X:153,843,092...153,860,674 		JBrowse link
G C G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G R G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G H G6PD glucose-6-phosphate dehydrogenase IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,531,390...154,547,569
Ensembl chr  X:154,517,825...154,547,572 		JBrowse link
G M G6pdx glucose-6-phosphate dehydrogenase X-linked ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,453,089...73,472,486
Ensembl chr  X:73,453,089...73,472,800 		JBrowse link
G N Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:492,210...573,887
Ensembl chrNW_004624963:492,292...573,878 		JBrowse link
G G GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,904,743...129,004,596
Ensembl chr  X:128,902,420...128,973,550 		JBrowse link
G P GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,158,148...125,209,080
Ensembl chr  X:125,158,154...125,209,035 		JBrowse link
G S Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:68,506...93,899
Ensembl chrNW_004936927:70,923...124,164 		JBrowse link
G D GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,741,199...122,822,446
Ensembl chr  X:122,741,197...122,779,143 		JBrowse link
G B GAB3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,150,062...144,232,216
Ensembl chr  X:153,993,736...154,038,529 		JBrowse link
G C Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G M Gab3 growth factor receptor bound protein 2-associated protein 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,032,151...74,128,511
Ensembl chr  X:74,010,449...74,129,064 		JBrowse link
G H GAB3 GRB2 associated binding protein 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,675,249...154,751,566
Ensembl chr  X:154,675,249...154,751,583 		JBrowse link
G N Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:902,831...908,815
Ensembl chrNW_004624946:902,461...909,613 		JBrowse link
G G GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,960,835...124,966,833
Ensembl chr  X:124,960,990...124,966,832 		JBrowse link
G S Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,188,793...1,194,816
Ensembl chrNW_004936809:1,188,628...1,194,863 		JBrowse link
G D GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,141,633...122,146,724
Ensembl chr  X:122,141,566...122,146,824 		JBrowse link
G B GDI1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,878,690...143,885,251
Ensembl chr  X:153,749,661...153,755,877 		JBrowse link
G C Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G R Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,087,611...152,094,274
Ensembl chr  X:152,087,444...152,094,272 		JBrowse link
G M Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,348,618...73,355,473
Ensembl chr  X:73,348,604...73,355,468 		JBrowse link
G H GDI1 GDP dissociation inhibitor 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,437,154...154,443,467
Ensembl chr  X:154,436,913...154,443,467 		JBrowse link
G P H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,277,575...125,280,752 JBrowse link
G D H2AB1 H2A.B variant histone 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,910,412...122,913,373
Ensembl chr  X:122,910,968...122,913,382 		JBrowse link
G H H2AB1 H2A.B variant histone 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,884,972...154,885,558
Ensembl chr  X:154,884,972...154,885,558 		JBrowse link
G P H2AB2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,537,401...125,540,026 JBrowse link
G M H2ab2 H2A.B variant histone 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:115,590,875...115,591,222
Ensembl chr  X:115,590,875...115,591,222 		JBrowse link
G H H2AB2 H2A.B variant histone 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,380,709...155,381,299
Ensembl chr  X:155,380,709...155,381,299 		JBrowse link
G D H2AB3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,309,084...123,310,276 JBrowse link
G R H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:82,362,531...82,363,105
Ensembl chr  X:82,362,633...82,362,983 		JBrowse link
G M H2ab3 H2A.B variant histone 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:119,222,279...119,222,923
Ensembl chr  X:119,222,445...119,222,792 		JBrowse link
G H H2AB3 H2A.B variant histone 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,459,415...155,460,005
Ensembl chr  X:155,459,415...155,460,005 		JBrowse link
G N Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:190,065...210,003
Ensembl chrNW_004624946:190,127...210,497 		JBrowse link
G G HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,882,121...127,930,089
Ensembl chr  X:127,878,900...127,902,344 		JBrowse link
G P HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,735...124,258,133
Ensembl chr  X:124,234,736...124,258,098 		JBrowse link
G S Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:321,906...350,105
Ensembl chrNW_004936809:321,497...350,110 		JBrowse link
G D HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,264,824...121,296,712
Ensembl chr  X:121,266,584...121,297,076 		JBrowse link
G B HAUS7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,998,240...143,032,602
Ensembl chr  X:152,881,714...152,907,620 		JBrowse link
G C Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G R Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,154,979...151,174,441
Ensembl chr  X:151,154,979...151,180,577 		JBrowse link
G M Haus7 HAUS augmin-like complex, subunit 7 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,480,921...72,502,635
Ensembl chr  X:72,480,921...72,502,650 		JBrowse link
G H HAUS7 HAUS augmin like complex subunit 7 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,447,668...153,495,465
Ensembl chr  X:153,447,668...153,495,516 		JBrowse link
G N Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247 		JBrowse link
G G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		JBrowse link
G P HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G S Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G D HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G B HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G C Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G R Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G M Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G H HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G N Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:465,832...472,259
Ensembl chrNW_004624946:461,780...472,336 		JBrowse link
G G IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,212,660...128,221,637 JBrowse link
G P IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,528,643...124,537,570
Ensembl chr  X:124,528,585...124,537,575 		JBrowse link
G S Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:666,231...675,279
Ensembl chrNW_004936809:666,337...675,214 		JBrowse link
G D IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,599,368...121,608,707
Ensembl chr  X:121,599,368...121,608,643 		JBrowse link
G B IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,336,460...143,345,274
Ensembl chr  X:153,222,309...153,231,135 		JBrowse link
G C Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		JBrowse link
G R Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171 		JBrowse link
G M Idh3g isocitrate dehydrogenase 3 (NAD+), gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,822,569...72,830,471
Ensembl chr  X:72,822,569...72,830,503 		JBrowse link
G H IDH3G isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,785,768...153,794,375
Ensembl chr  X:153,785,766...153,794,512 		JBrowse link
G N Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:997,571...1,015,748
Ensembl chrNW_004624946:996,814...1,013,379 		JBrowse link
G G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,781,975...128,816,039
Ensembl chr  X:128,787,785...128,806,083 		JBrowse link
G P IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,035,575...125,056,445
Ensembl chr  X:125,036,508...125,056,453 		JBrowse link
G S Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,280,254...1,306,964
Ensembl chrNW_004936809:1,257,654...1,301,813 		JBrowse link
G D IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562 		JBrowse link
G B IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,988,720...144,010,078
Ensembl chr  X:153,854,493...153,876,092 		JBrowse link
G C Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G R Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
G M Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460 		JBrowse link
G H IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046 		JBrowse link
G N Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004624946:613,392...618,459
Ensembl chrNW_004624946:613,890...618,445 		JBrowse link
G G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043 		JBrowse link
G P IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G S Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G D IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G B IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G C Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G R Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G M Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G H IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G N L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:512,413...533,669
Ensembl chrNW_004624946:513,297...525,009 		JBrowse link
G G L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,285,128...128,309,173
Ensembl chr  X:128,285,130...128,299,570 		JBrowse link
G P L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,595,649...124,618,292
Ensembl chr  X:124,595,651...124,618,307 		JBrowse link
G S L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:736,385...768,822
Ensembl chrNW_004936809:736,319...761,973 		JBrowse link
G D L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,708,695...121,722,819
Ensembl chr  X:121,708,894...121,733,365 		JBrowse link
G B L1CAM L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,412,303...143,437,090
Ensembl chr  X:153,298,690...153,324,228 		JBrowse link
G C L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G R L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857 		JBrowse link
G M L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,897,384...72,924,843
Ensembl chr  X:72,897,384...72,939,711 		JBrowse link
G H L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
G N Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:951,479...952,962
Ensembl chrNW_004624946:949,343...953,362 		JBrowse link
G G LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,725,788...128,727,565 JBrowse link
G P LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,001,673...125,003,206 JBrowse link
G S Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,229,933...1,232,448 JBrowse link
G D LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,185,300...122,186,498 JBrowse link
G B LAGE3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,919,519...143,921,001
Ensembl chr  X:153,790,672...153,792,549 		JBrowse link
G C Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G R Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,138,209...152,139,632
Ensembl chr  X:152,138,218...152,139,632 		JBrowse link
G M Lage3 L antigen family, member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,395,768...73,397,224
Ensembl chr  X:73,394,882...73,397,224 		JBrowse link
G H LAGE3 L antigen family member 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,477,775...154,479,281
Ensembl chr  X:154,477,775...154,479,281 		JBrowse link
G D LOC100683646 EKC/KEOPS complex subunit LAGE3-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,566,522...122,567,799 JBrowse link
G B LOC100985575 40-kDa huntingtin-associated protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,851,466...144,853,185 JBrowse link
G B LOC100992822 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,364,612...144,365,333 JBrowse link
G S LOC101967165 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:232,353...232,857 JBrowse link
G C LOC102021406 histone H2A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 JBrowse link
G G LOC103232819 testis-specific protein TEX28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,583,639...128,607,682
Ensembl chr  X:128,583,880...128,601,402 		JBrowse link
G G LOC103232838 cancer/testis antigen 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,864,043...128,868,405 JBrowse link
G G LOC103232850 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,130,005...129,131,069 JBrowse link
G H LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9536098 PMID:16684786 PMID:17576681 PMID:18414213 PMID:20014127 More... NCBI chr  X:154,335,912...154,349,572 JBrowse link
G P LOC110257703 paraneoplastic antigen-like protein 6B ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,203,040...124,204,023 JBrowse link
G B LOC112438438 paraneoplastic antigen Ma6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,947,214...142,949,820 JBrowse link
G B LOC117977735 histone H2A-Bbd type 2/3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,849,954...144,850,606 JBrowse link
G H LOC129994023 ATAC-STARR-seq lymphoblastoid active region 22644 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:29738522 NCBI chr 5:72,194,894...72,194,983 JBrowse link
G P LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,816,014...124,828,225 JBrowse link
G G MAGEA1 MAGE family member A1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,660,892...127,662,685
Ensembl chr  X:127,661,484...127,662,410 		JBrowse link
G B MAGEA1 MAGE family member A1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,727,982...142,732,563 JBrowse link
G H MAGEA1 MAGE family member A1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,179,284...153,183,880
Ensembl chr  X:153,179,284...153,183,880 		JBrowse link
G M Magea5 MAGE family member A5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,836,057...153,846,147
Ensembl chr  X:153,836,057...153,846,141 		JBrowse link
G N Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chrNW_004624905:1,198,157...1,304,128
Ensembl chrNW_004624905:1,198,205...1,304,309 		JBrowse link
G G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 4:66,445,687...66,548,595
Ensembl chr 4:66,445,901...66,549,142 		JBrowse link
G P MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885 		JBrowse link
G S Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chrNW_004936549:4,266,371...4,371,579
Ensembl chrNW_004936549:4,266,351...4,371,644 		JBrowse link
G D MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975 		JBrowse link
G B MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393 		JBrowse link
G C Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chrNW_004955575:914,607...1,020,971
Ensembl chrNW_004955575:913,723...1,021,028 		JBrowse link
G R Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317 		JBrowse link
G M Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048 		JBrowse link
G H MAP1B microtubule associated protein 1B IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia ClinVar PMID:25741868 PMID:29738522 PMID:30150678 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
G N Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G P MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G S Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G D MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G B MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G C Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G R Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G M Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G H MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G N Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:445,559...467,976
Ensembl chrNW_004624963:445,588...467,976 		JBrowse link
G G MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,030,736...129,057,952
Ensembl chr  X:129,030,735...129,044,777 		JBrowse link
G P MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,230,412...125,252,384
Ensembl chr  X:125,229,450...125,350,853 		JBrowse link
G S Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:147,448...170,435
Ensembl chrNW_004936927:147,282...170,575 		JBrowse link
G D MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,851,667...122,878,865
Ensembl chr  X:122,851,667...122,879,394 		JBrowse link
G B MPP1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,258,416...144,285,658
Ensembl chr  X:154,099,463...154,126,575 		JBrowse link
G C Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G R Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G M Mpp1 membrane protein, palmitoylated ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,153,339...74,174,622
Ensembl chr  X:74,153,339...74,174,622 		JBrowse link
G H MPP1 MAGUK p55 scaffold protein 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,778,684...154,805,485
Ensembl chr  X:154,778,684...154,821,007 		JBrowse link
G N Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:212,524...218,187
Ensembl chrNW_004624963:215,462...218,187 		JBrowse link
G G MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,351,336...129,358,601
Ensembl chr  X:129,352,805...129,353,322 		JBrowse link
G P MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,372,941...125,377,910
Ensembl chr  X:125,377,350...125,381,178 		JBrowse link
G S Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:334,017...341,016
Ensembl chrNW_004936927:334,894...341,072 		JBrowse link
G D MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,071,076...123,080,695
Ensembl chr  X:123,074,956...123,080,793 		JBrowse link
G B MTCP1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,542,898...144,550,059
Ensembl chr  X:154,382,737...154,385,472 		JBrowse link
G C Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G R Mtcp1 mature T-cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr18:126,189...130,123 JBrowse link
G M Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,454,048...74,460,190
Ensembl chr  X:74,454,050...74,460,194 		JBrowse link
G H MTCP1 mature T cell proliferation 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,064,034...155,071,136
Ensembl chr  X:155,064,034...155,147,937 		JBrowse link
G N Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004624946:560,924...570,340
Ensembl chrNW_004624946:559,710...570,372
Ensembl chrNW_004624946:559,710...570,372 		JBrowse link
G G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit 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:128,353,262...128,359,222
Ensembl chr  X:128,352,634...128,359,085 		JBrowse link
G P NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit 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:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G S Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		JBrowse link
G D NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit 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:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G B NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit 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:143,484,008...143,489,904 JBrowse link
G C Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G R Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 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:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G M Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 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:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G H NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP 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:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G N Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004624792:3,553,185...3,903,288
Ensembl chrNW_004624792:3,553,004...3,902,468 		JBrowse link
G G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905 		JBrowse link
G P NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,057...162,513,718 		JBrowse link
G S Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		JBrowse link
G D NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
G B NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G C Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714 		JBrowse link
G R Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137 		JBrowse link
G M Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899 		JBrowse link
G H NEDD4L NEDD4 like E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G N Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624883:4,039,876...4,062,309
Ensembl chrNW_004624883:4,039,898...4,066,123 		JBrowse link
G G NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,342,788...127,389,117
Ensembl chr  X:127,342,850...127,390,536 		JBrowse link
G P NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G S Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
G D NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G B NSDHL NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931 		JBrowse link
G C Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		JBrowse link
G R Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G M Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G H NSDHL NAD(P) dependent steroid dehydrogenase-like IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
G D OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G H OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G R Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G M Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		JBrowse link
G H OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G H OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
G N Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:477,125...496,871
Ensembl chrNW_004624946:477,156...496,750 		JBrowse link
G G PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,229,495...128,255,341
Ensembl chr  X:128,229,300...128,255,312 		JBrowse link
G P PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,543,845...124,567,477
Ensembl chr  X:124,544,944...124,567,369 		JBrowse link
G S Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:681,412...707,932
Ensembl chrNW_004936809:679,938...707,938 		JBrowse link
G D PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,616,122...121,647,326
Ensembl chr  X:121,616,114...121,647,697 		JBrowse link
G B PDZD4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,352,944...143,381,428
Ensembl chr  X:153,240,182...153,267,874 		JBrowse link
G C Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G R Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,530,390...151,560,779
Ensembl chr  X:151,530,390...151,560,826 		JBrowse link
G M Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,836,963...72,868,649
Ensembl chr  X:72,836,965...72,868,575 		JBrowse link
G H PDZD4 PDZ domain containing 4 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,802,166...153,830,544
Ensembl chr  X:153,802,166...153,830,565 		JBrowse link
G N Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:924,956...939,483
Ensembl chrNW_004624946:926,521...939,483 		JBrowse link
G G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,706,354...128,721,971
Ensembl chr  X:128,708,424...128,721,971 		JBrowse link
G P PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G S Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,209,787...1,226,726
Ensembl chrNW_004936809:1,209,743...1,226,728 		JBrowse link
G D PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,165,460...122,180,727
Ensembl chr  X:122,167,144...122,180,951 		JBrowse link
G B PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,900,029...143,915,391
Ensembl chr  X:153,772,700...153,786,167 		JBrowse link
G C Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G R Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603 		JBrowse link
G M Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,372,644...73,388,295
Ensembl chr  X:73,372,672...73,388,295 		JBrowse link
G H PLXNA3 plexin A3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,458,281...154,477,779
Ensembl chr  X:154,458,281...154,477,779 		JBrowse link
G N Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:447,981...460,880
Ensembl chrNW_004624946:450,047...460,718 		JBrowse link
G G PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,191,297...128,207,456
Ensembl chr  X:128,191,332...128,206,194 		JBrowse link
G P PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,507,953...124,522,780
Ensembl chr  X:124,509,526...124,522,767 		JBrowse link
G S Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:645,569...659,850
Ensembl chrNW_004936809:644,049...659,859 		JBrowse link
G D PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,577,564...121,593,294
Ensembl chr  X:121,580,073...121,593,287 		JBrowse link
G B PLXNB3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,314,794...143,330,066
Ensembl chr  X:153,200,971...153,215,909 		JBrowse link
G C Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G R Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,493,832...151,508,688
Ensembl chr  X:151,494,207...151,508,674 		JBrowse link
G M Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,800,564...72,816,116
Ensembl chr  X:72,800,696...72,816,120 		JBrowse link
G H PLXNB3 plexin B3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,764,249...153,779,341
Ensembl chr  X:153,764,196...153,779,346 		JBrowse link
G N Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:377,454...391,055
Ensembl chrNW_004624946:376,856...391,192 		JBrowse link
G G PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,099,736...128,104,348
Ensembl chr  X:128,099,682...128,103,121 		JBrowse link
G P PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,425,867...124,430,000
Ensembl chr  X:124,425,872...124,429,261 		JBrowse link
G S Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:553,438...557,385
Ensembl chrNW_004936809:553,431...557,427 		JBrowse link
G D PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,489,041...121,491,356
Ensembl chr  X:121,489,040...121,491,431 		JBrowse link
G B PNCK pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,220,029...143,224,659
Ensembl chr  X:153,106,491...153,123,897 		JBrowse link
G C Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G R Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,369,406...151,373,508
Ensembl chr  X:151,369,410...151,373,446 		JBrowse link
G M Pnck pregnancy upregulated non-ubiquitously expressed CaM kinase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,699,598...72,703,723
Ensembl chr  X:72,699,600...72,703,723 		JBrowse link
G H PNCK pregnancy up-regulated nonubiquitous CaM kinase IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,669,733...153,687,771
Ensembl chr  X:153,669,733...153,689,010 		JBrowse link
G G PNMA3 PNMA family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,546,571...127,550,588
Ensembl chr  X:127,547,198...127,548,589 		JBrowse link
G S Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:90,133...93,805
Ensembl chrNW_004936714:92,269...93,660 		JBrowse link
G B PNMA3 PNMA family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,631,788...142,635,768
Ensembl chr  X:152,551,452...152,552,940 		JBrowse link
G R Pnma3 PNMA family member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,906,080...150,912,674
Ensembl chr  X:150,906,278...150,910,839 		JBrowse link
G M Pnma3 paraneoplastic antigen MA3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,108,393...72,111,797
Ensembl chr  X:72,108,393...72,111,797 		JBrowse link
G H PNMA3 PNMA family member 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,056,470...153,060,462
Ensembl chr  X:153,056,409...153,060,467 		JBrowse link
G G PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,511,081...127,517,052
Ensembl chr  X:127,512,502...127,513,848 		JBrowse link
G P PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,998,935...124,001,201
Ensembl chr  X:123,999,037...124,000,974 		JBrowse link
G S Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:155,618...156,955
Ensembl chrNW_004936714:155,618...157,563 		JBrowse link
G B PNMA5 PNMA family member 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,564,200...142,566,785
Ensembl chr  X:152,483,930...152,485,276 		JBrowse link
G R Pnma5 PNMA family member 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,880,865...150,882,789
Ensembl chr  X:150,880,865...150,882,789 		JBrowse link
G M Pnma5 paraneoplastic antigen family 5 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,077,587...72,083,315
Ensembl chr  X:72,077,587...72,080,709 		JBrowse link
G H PNMA5 PNMA family member 5 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,988,824...152,994,116
Ensembl chr  X:152,988,824...152,994,116 		JBrowse link
G S Pnma6a PNMA family member 6A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:76,508...79,485
Ensembl chrNW_004936714:77,885...79,336 		JBrowse link
G D PNMA6A PNMA family member 6A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,909,423...120,912,903
Ensembl chr  X:120,910,842...120,912,251 		JBrowse link
G B PNMA6A PNMA family member 6A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,645,639...142,649,841 JBrowse link
G H PNMA6A PNMA family member 6A IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,072,454...153,075,019
Ensembl chr  X:153,072,454...153,075,019 		JBrowse link
G G PNMA6E PNMA family member 6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G S Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:266,367...269,248 JBrowse link
G D PNMA6E PNMA family member 6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,218,147...121,220,896 JBrowse link
G R Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,103,531...151,108,630
Ensembl chr  X:151,103,755...151,106,037 		JBrowse link
G M Pnma6e PNMA family member 6E ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,438,793...72,442,418
Ensembl chr  X:72,440,045...72,442,342 		JBrowse link
G H PNMA6E PNMA family member 6E IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,395,639...153,414,004
Ensembl chr  X:153,395,639...153,401,392 		JBrowse link
G N Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:51,978...71,781
Ensembl chrNW_004624963:63,187...73,440 		JBrowse link
G G RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,536,528...129,542,238
Ensembl chr  X:129,536,347...129,542,075 		JBrowse link
G P RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,520,764...125,528,253
Ensembl chr  X:125,520,497...125,527,379 		JBrowse link
G S Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:492,114...498,030
Ensembl chrNW_004936927:492,099...498,294 		JBrowse link
G D RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,245,227...123,251,283
Ensembl chr  X:123,247,760...123,251,288 		JBrowse link
G B RAB39B RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,728,535...144,734,893
Ensembl chr  X:154,567,361...154,573,715 		JBrowse link
G C Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G M Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		JBrowse link
G H RAB39B RAB39B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,258,235...155,264,491
Ensembl chr  X:155,258,235...155,264,491 		JBrowse link
G G RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,359,313...128,369,070
Ensembl chr  X:128,359,396...128,368,581 		JBrowse link
G P RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G S Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G D RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G B RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214 		JBrowse link
G C Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G R Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G M Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		JBrowse link
G H RENBP renin binding protein IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G N Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:860,639...863,636 JBrowse link
G G RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,927,249...124,929,791
Ensembl chr  X:124,926,772...124,929,791 		JBrowse link
G S Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,146,994...1,149,573
Ensembl chrNW_004936809:1,146,809...1,149,618 		JBrowse link
G D RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,098,020...122,100,719
Ensembl chr  X:122,098,020...122,100,719 		JBrowse link
G B RPL10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,839,739...143,844,026 JBrowse link
G C Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G R Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,054,562...152,056,769
Ensembl chr  X:152,054,452...152,056,761 		JBrowse link
G M Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,314,463...73,316,741
Ensembl chr  X:73,314,418...73,316,741 		JBrowse link
G H RPL10 ribosomal protein L10 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,398,065...154,402,339
Ensembl chr  X:154,389,955...154,409,168 		JBrowse link
G N Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:958,850...961,163
Ensembl chrNW_004624946:959,051...960,502 		JBrowse link
G G SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,736,793...128,741,400
Ensembl chr  X:128,736,991...128,738,424 		JBrowse link
G P SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,010,128...125,013,992
Ensembl chr  X:125,010,131...125,011,928 		JBrowse link
G P SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,007,121...125,009,657
Ensembl chr  X:125,007,122...125,013,980 		JBrowse link
G S Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,241,980...1,245,986
Ensembl chrNW_004936809:1,241,986...1,246,266 		JBrowse link
G D SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,197,049...122,201,103
Ensembl chr  X:122,197,289...122,200,219 		JBrowse link
G B SLC10A3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,929,086...143,932,406
Ensembl chr  X:153,800,354...153,803,653 		JBrowse link
G C Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G R Slc10a3 solute carrier family 10, member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,154,757...152,158,563
Ensembl chr  X:152,151,076...152,162,958 		JBrowse link
G M Slc10a3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,412,823...73,416,955
Ensembl chr  X:73,412,823...73,416,955 		JBrowse link
G H SLC10A3 solute carrier family 10 member 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,487,311...154,490,629
Ensembl chr  X:154,487,306...154,490,690 		JBrowse link
G N Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:389,806...396,653 JBrowse link
G G SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,116,490...128,124,899
Ensembl chr  X:128,116,944...128,124,918 		JBrowse link
G P SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,435,282...124,452,182
Ensembl chr  X:124,294,856...124,452,182 		JBrowse link
G S Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:571,234...578,298 JBrowse link
G D SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,505,117...121,511,674
Ensembl chr  X:121,505,141...121,510,347 		JBrowse link
G B SLC6A8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G C Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:419,696...426,727 JBrowse link
G R Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,384,675...151,393,979
Ensembl chr  X:151,384,675...151,393,979 		JBrowse link
G M Slc6a8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,716,739...72,726,108
Ensembl chr  X:72,716,756...72,726,108 		JBrowse link
G H SLC6A8 solute carrier family 6 member 8 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,687,926...153,696,593
Ensembl chr  X:153,687,926...153,696,588 		JBrowse link
G N Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:432,489...434,002 JBrowse link
G G SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,077,982...129,086,461
Ensembl chr  X:129,078,394...129,084,273 		JBrowse link
G P SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,254,737...125,262,113
Ensembl chr  X:125,255,157...125,259,938 		JBrowse link
G S Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:171,867...186,718 JBrowse link
G D SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,885,491...122,893,466 JBrowse link
G B SMIM9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,303,611...144,311,226
Ensembl chr  X:154,144,752...154,151,903 		JBrowse link
G C Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:803,406...816,735 JBrowse link
G M Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,189,663...74,207,362
Ensembl chr  X:74,189,662...74,207,376 		JBrowse link
G H SMIM9 small integral membrane protein 9 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,823,348...154,834,662
Ensembl chr  X:154,823,348...154,834,662 		JBrowse link
G N Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:462,108...465,831
Ensembl chrNW_004624946:462,114...465,841 		JBrowse link
G G SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,207,636...128,212,624
Ensembl chr  X:128,207,989...128,212,410 		JBrowse link
G P SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,524,102...124,528,607
Ensembl chr  X:124,524,083...124,528,945 		JBrowse link
G S Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:661,264...666,198
Ensembl chrNW_004936809:661,264...666,188 		JBrowse link
G D SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,594,992...121,599,333
Ensembl chr  X:121,594,864...121,599,277 		JBrowse link
G B SRPK3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,331,213...143,336,426
Ensembl chr  X:153,216,794...153,222,273 		JBrowse link
G C Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G R Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,510,452...151,515,208
Ensembl chr  X:151,510,539...151,515,198 		JBrowse link
G M Srpk3 serine/arginine-rich protein specific kinase 3 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,818,011...72,822,531
Ensembl chr  X:72,818,011...72,822,531 		JBrowse link
G H SRPK3 SRSF protein kinase 3 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,781,041...153,785,730
Ensembl chr  X:153,776,412...153,785,732 		JBrowse link
G N Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:472,364...475,989
Ensembl chrNW_004624946:472,339...475,989 		JBrowse link
G G SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,221,671...128,225,628
Ensembl chr  X:128,221,443...128,225,873 		JBrowse link
G P SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,537,545...124,541,635
Ensembl chr  X:124,537,540...124,541,637 		JBrowse link
G S Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:675,178...679,245
Ensembl chrNW_004936809:675,049...679,707 		JBrowse link
G D SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,608,802...121,613,796
Ensembl chr  X:121,608,944...121,613,795 		JBrowse link
G B SSR4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,344,286...143,349,272
Ensembl chr  X:153,230,137...153,235,124 		JBrowse link
G C Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G R Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,524,191...151,528,218
Ensembl chr  X:151,524,009...151,528,202 		JBrowse link
G M Ssr4 signal sequence receptor, delta ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,830,778...72,834,432
Ensembl chr  X:72,830,634...72,834,436 		JBrowse link
G H SSR4 signal sequence receptor subunit 4 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,794,159...153,798,512
Ensembl chr  X:153,793,516...153,798,499 		JBrowse link
G N Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:871,618...885,331
Ensembl chrNW_004624946:871,901...879,508 		JBrowse link
G G TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G P TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,940,036...124,946,275
Ensembl chr  X:124,940,031...124,946,273 		JBrowse link
G S Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		JBrowse link
G D TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,111,608...122,125,714
Ensembl chr  X:122,111,434...122,125,506 		JBrowse link
G B TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,853,054...143,863,491
Ensembl chr  X:153,725,294...153,734,046 		JBrowse link
G C Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G R Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,065,539...152,076,178
Ensembl chr  X:152,065,609...152,074,001 		JBrowse link
G M Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,325,498...73,340,182
Ensembl chr  X:73,325,518...73,333,757 		JBrowse link
G H TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,411,539...154,421,726
Ensembl chr  X:154,411,524...154,421,726 		JBrowse link
G N Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004624946:718,330...748,957 JBrowse link
G P TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G S Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		JBrowse link
G D TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G B TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,711,495...143,736,128 JBrowse link
G C Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:781,339...791,284 JBrowse link
G R Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G M Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia
ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		JBrowse link
G H TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853 		JBrowse link
G N Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004624946:760,078...775,073 JBrowse link
G G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,607,766...128,642,074
Ensembl chr  X:128,607,901...128,642,063 		JBrowse link
G P TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G S Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		JBrowse link
G D TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G B TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,736,589...143,772,277 JBrowse link
G C Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G R Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G M Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
G H TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350 		JBrowse link
G G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:128,396,566...128,406,611
Ensembl chr  X:128,405,488...128,406,273 		JBrowse link
G P TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:124,695,050...124,699,349 JBrowse link
G D TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:121,815,982...121,820,790 JBrowse link
G B TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587 		JBrowse link
G H TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant
ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular		 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 More... NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194 		JBrowse link
G N Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624980:310,630...407,364
Ensembl chrNW_004624980:310,426...406,972 		JBrowse link
G G TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,628,788...129,729,616
Ensembl chr  X:129,626,286...129,729,592 		JBrowse link
G P TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,601,920...125,673,716
Ensembl chr  X:125,598,116...125,673,669 		JBrowse link
G S Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936958:64,713...113,627 JBrowse link
G D TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,322,773...123,438,999
Ensembl chr  X:123,324,729...123,438,947 		JBrowse link
G B TMLHE trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,956,906...145,081,204 JBrowse link
G C Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G R Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr20:91,234...138,942
Ensembl chr20:91,272...140,386 		JBrowse link
G M Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G H TMLHE trimethyllysine hydroxylase, epsilon IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,489,011...155,612,952
Ensembl chr  X:155,489,011...155,719,098 		JBrowse link
G N Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:187,147...188,805
Ensembl chrNW_004624946:187,056...210,497 		JBrowse link
G G TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,878,891...127,882,019 JBrowse link
G P TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,234,736...124,244,193
Ensembl chr  X:124,234,738...124,238,598 		JBrowse link
G S Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:317,655...319,293
Ensembl chrNW_004936809:318,548...319,258 		JBrowse link
G D TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,263,341...121,265,009
Ensembl chr  X:121,258,646...121,264,555 		JBrowse link
G B TREX2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,995,051...142,998,178 JBrowse link
G C Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G R Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,151,862...151,153,470
Ensembl chr  X:151,151,864...151,153,479 		JBrowse link
G M Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,477,311...72,478,949
Ensembl chr  X:72,477,311...72,478,950 		JBrowse link
G H TREX2 three prime repair exonuclease 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,444,473...153,446,056
Ensembl chr  X:153,444,473...153,470,587 		JBrowse link
G N Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:955,993...958,424
Ensembl chrNW_004624946:955,993...958,849 		JBrowse link
G G UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:128,733,219...128,736,150
Ensembl chr  X:128,732,876...128,736,077 		JBrowse link
G S Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:1,238,459...1,241,319
Ensembl chrNW_004936809:1,238,462...1,241,318 		JBrowse link
G D UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:122,195,500...122,196,579
Ensembl chr  X:122,195,502...122,196,577 		JBrowse link
G B UBL4A ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:143,925,494...143,928,444 JBrowse link
G C Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G R Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,151,242...152,154,094
Ensembl chr  X:152,151,460...152,154,069 		JBrowse link
G M Ubl4a ubiquitin-like 4A ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:73,409,324...73,412,154
Ensembl chr  X:73,409,324...73,416,824 		JBrowse link
G H UBL4A ubiquitin like 4A IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:154,483,717...154,486,615
Ensembl chr  X:154,483,717...154,486,615 		JBrowse link
G N Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624963:94,482...129,223
Ensembl chrNW_004624963:93,135...129,198 		JBrowse link
G G VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:129,487,543...129,510,301 JBrowse link
G P VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:125,485,357...125,506,781
Ensembl chr  X:125,480,808...125,506,771 		JBrowse link
G S Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936927:433,598...468,191
Ensembl chrNW_004936927:433,551...469,331 		JBrowse link
G D VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,210,965...123,231,847
Ensembl chr  X:123,203,722...123,231,091 		JBrowse link
G B VBP1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:144,685,548...144,709,136
Ensembl chr  X:154,504,795...154,547,773 		JBrowse link
G C Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
G R Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More...
G M Vbp1 von Hippel-Lindau binding protein 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:74,557,903...74,578,552
Ensembl chr  X:74,557,905...74,578,548 		JBrowse link
G H VBP1 VHL binding protein 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:155,197,007...155,239,841
Ensembl chr  X:155,197,007...155,239,841 		JBrowse link
G R Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:150,831,869...150,877,652
Ensembl chr  X:150,831,862...150,874,810 		JBrowse link
G M Zfp185 zinc finger protein 185 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,030,860...72,075,149
Ensembl chr  X:72,030,945...72,075,149 		JBrowse link
G N Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624946:165,358...177,243
Ensembl chrNW_004624946:170,620...173,765 		JBrowse link
G G ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,844,834...127,858,722
Ensembl chr  X:127,851,738...127,859,858 		JBrowse link
G P ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,215,906...124,227,853
Ensembl chr  X:124,216,324...124,224,778 		JBrowse link
G S Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936809:294,114...309,368
Ensembl chrNW_004936809:301,482...356,094 		JBrowse link
G D ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,237,905...121,248,856
Ensembl chr  X:121,237,827...121,248,862 		JBrowse link
G B ZFP92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,961,821...142,976,962
Ensembl chr  X:152,848,217...152,863,236 		JBrowse link
G C Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967 		JBrowse link
G R Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:151,116,794...151,142,451
Ensembl chr  X:151,117,102...151,143,177 		JBrowse link
G M Zfp92 zinc finger protein 92 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:72,454,555...72,473,980
Ensembl chr  X:72,454,702...72,471,991 		JBrowse link
G H ZFP92 ZFP92 zinc finger protein IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,411,472...153,426,481
Ensembl chr  X:153,411,472...153,426,481 		JBrowse link
G N Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004624883:4,084,018...4,140,308
Ensembl chrNW_004624883:4,084,196...4,140,508 		JBrowse link
G G ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:127,418,209...127,493,217 JBrowse link
G P ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:123,942,981...123,988,102
Ensembl chr  X:123,944,210...123,987,962 		JBrowse link
G S Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004936714:167,552...218,785
Ensembl chrNW_004936714:152,319...218,921 		JBrowse link
G D ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:120,770,099...120,846,855
Ensembl chr  X:120,782,011...120,843,322 		JBrowse link
G B ZNF185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:142,472,497...142,547,835
Ensembl chr  X:152,391,505...152,464,221 		JBrowse link
G C Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209 		JBrowse link
G H ZNF185 zinc finger protein 185 with LIM domain IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:152,898,067...152,973,481
Ensembl chr  X:152,898,067...152,973,481 		JBrowse link
G P ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:124,156,708...124,173,566 JBrowse link
G D ZNF275 zinc finger protein 275 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:121,161,954...121,179,207
Ensembl chr  X:121,173,094...121,174,224 		JBrowse link
G H ZNF275 zinc finger protein 275 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chr  X:153,334,153...153,352,926
Ensembl chr  X:153,334,147...153,360,110 		JBrowse link
Periventricular Nodular Heterotopia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chrNW_004624790:6,290,021...6,381,492
Ensembl chrNW_004624790:6,290,881...6,381,461 		JBrowse link
G G ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chr 2:14,947,347...15,058,217
Ensembl chr 2:14,947,351...15,030,772 		JBrowse link
G P ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chr17:50,631,844...50,732,253
Ensembl chr17:50,631,092...50,732,243 		JBrowse link
G S Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936514:5,172,752...5,262,823
Ensembl chrNW_004936514:5,172,584...5,262,836 		JBrowse link
G D ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chr24:35,648,650...35,744,815
Ensembl chr24:35,648,431...35,744,584 		JBrowse link
G B ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chr20:45,262,330...45,376,237
Ensembl chr20:46,327,753...46,442,518 		JBrowse link
G C Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive OMIM
ClinVar		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955445:9,069,803...9,153,746
Ensembl chrNW_004955445:9,070,234...9,153,213 		JBrowse link
G R Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO 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 3:155,547,504...155,633,652
Ensembl chr 3:155,547,538...155,630,856 		JBrowse link
G M Arfgef2 ADP ribosylation factor guanine nucleotide exchange factor 2 ISO 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 2:166,647,371...166,739,972
Ensembl chr 2:166,647,508...166,739,972 		JBrowse link
G H ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 IAGP
EXP		 DNA:missense mutations, deletion:exon:multiple
ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:12682315 PMID:14647276 PMID:17576681 PMID:18414213 More... RGD:1300288 NCBI chr20:48,921,711...49,036,693
Ensembl chr20:48,921,711...49,036,693 		JBrowse link
G N Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004624817:8,111,714...8,147,699
Ensembl chrNW_004624817:8,111,718...8,134,342 		JBrowse link
G G DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:58,170,494...58,204,156
Ensembl chr 1:58,184,591...58,205,962 		JBrowse link
G P DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 9:3,099,525...3,134,825
Ensembl chr 9:3,113,451...3,134,821 		JBrowse link
G S Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004936842:677,416...697,013
Ensembl chrNW_004936842:677,416...697,003 		JBrowse link
G D DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr21:29,927,713...29,955,742
Ensembl chr21:29,928,176...29,948,713 		JBrowse link
G B DCHS1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G C Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004955414:22,331,590...22,365,761
Ensembl chrNW_004955414:22,332,059...22,351,576 		JBrowse link
G R Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G M Dchs1 dachsous cadherin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 7:105,402,196...105,437,562
Ensembl chr 7:105,402,197...105,436,861 		JBrowse link
G H DCHS1 dachsous cadherin-related 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809 		JBrowse link
G N Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980 		JBrowse link
G G FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 7:72,498,182...72,686,607
Ensembl chr 7:72,500,264...72,685,546 		JBrowse link
G P FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 8:99,141,967...99,312,131
Ensembl chr 8:99,148,496...99,310,519 		JBrowse link
G S Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004936662:3,537,917...3,704,012
Ensembl chrNW_004936662:3,537,925...3,690,877 		JBrowse link
G D FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045 		JBrowse link
G B FAT4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
G C Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chrNW_004955428:15,621,333...15,812,167
Ensembl chrNW_004955428:15,622,498...15,810,896 		JBrowse link
G R Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
G M Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 3:38,939,867...39,066,134
Ensembl chr 3:38,941,089...39,066,134 		JBrowse link
G H FAT4 FAT atypical cadherin 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
G H LOC130066080 ATAC-STARR-seq lymphoblastoid silent region 12991 IAGP ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive ClinVar PMID:25741868 NCBI chr20:48,921,782...48,921,881 JBrowse link
Periventricular Nodular Heterotopia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Flna filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G G FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G P FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:124,889,934...124,915,000
Ensembl chr  X:124,890,162...124,914,992 		JBrowse link
G S Flna filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chrNW_004936809:1,097,288...1,123,206
Ensembl chrNW_004936809:1,097,294...1,123,201 		JBrowse link
G D FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G B FLNA filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:143,799,088...143,825,282 JBrowse link
G C Flna filamin A ISO ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 ClinVar PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G R Flna filamin A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | 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:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G M Flna filamin, alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | 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:73,267,067...73,293,787
Ensembl chr  X:73,267,067...73,293,426 		JBrowse link
G H FLNA filamin A EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4
ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT | ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant		 CTD
ClinVar		 PMID:3265608 PMID:6019437 PMID:9071288 PMID:9536098 PMID:10982489 More... NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G N Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:571,776...591,543
Ensembl chrNW_004624946:571,774...590,247 		JBrowse link
G G HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,371,518...128,395,920
Ensembl chr  X:128,371,517...128,394,861 		JBrowse link
G P HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,673,125...124,694,846
Ensembl chr  X:124,673,128...124,694,152 		JBrowse link
G S Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G D HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,790,585...121,815,395
Ensembl chr  X:121,791,660...121,814,715 		JBrowse link
G B HCFC1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,502,159...143,526,418
Ensembl chr  X:153,389,859...153,412,999 		JBrowse link
G C Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G R Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G M Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:72,986,400...73,011,430
Ensembl chr  X:72,986,398...73,009,963 		JBrowse link
G H HCFC1 host cell factor C1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:153,947,557...153,971,818
Ensembl chr  X:153,947,557...153,971,818 		JBrowse link
G N Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:613,392...618,459
Ensembl chrNW_004624946:613,890...618,445 		JBrowse link
G G IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,433,462...128,443,126
Ensembl chr  X:128,433,465...128,443,043 		JBrowse link
G P IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,717,604...124,724,855
Ensembl chr  X:124,717,612...124,724,860 		JBrowse link
G S Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:891,407...900,311
Ensembl chrNW_004936809:890,717...900,326 		JBrowse link
G D IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,853,340...121,862,582
Ensembl chr  X:121,819,432...121,862,576 		JBrowse link
G B IRAK1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,560,802...143,570,185
Ensembl chr  X:153,446,827...153,460,602 		JBrowse link
G C Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G R Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,768,621...151,778,521
Ensembl chr  X:151,768,777...151,778,521 		JBrowse link
G M Irak1 interleukin-1 receptor-associated kinase 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,057,520...73,067,527
Ensembl chr  X:73,057,520...73,067,524 		JBrowse link
G H IRAK1 interleukin 1 receptor associated kinase 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,010,507...154,019,902
Ensembl chr  X:154,010,506...154,019,902 		JBrowse link
G G LOC103232819 testis-specific protein TEX28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,583,639...128,607,682
Ensembl chr  X:128,583,880...128,601,402 		JBrowse link
G H LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:25741868 PMID:28492532 PMID:35000503 NCBI chr  X:154,335,912...154,349,572 JBrowse link
G P LOC494564 medium-wave-sensitive opsin ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,816,014...124,828,225 JBrowse link
G N Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,445,028...128,519,892
Ensembl chr  X:128,453,577...128,455,785 		JBrowse link
G P MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,738,659 		JBrowse link
G S Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
G D MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G B MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,571,864...143,647,192
Ensembl chr  X:153,465,204...153,527,854 		JBrowse link
G C Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G R Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689 		JBrowse link
G M Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G H MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103 		JBrowse link
G N Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:560,924...570,340
Ensembl chrNW_004624946:559,710...570,372
Ensembl chrNW_004624946:559,710...570,372 		JBrowse link
G G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,353,262...128,359,222
Ensembl chr  X:128,352,634...128,359,085 		JBrowse link
G P NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,658,429...124,662,744
Ensembl chr  X:124,658,158...124,662,702 		JBrowse link
G S Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:812,454...817,226
Ensembl chrNW_004936809:812,390...817,288 		JBrowse link
G D NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,777,658...121,782,097
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G B NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,484,008...143,489,904 JBrowse link
G C Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G R Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,656,056...151,661,304
Ensembl chr  X:151,656,056...151,661,252 		JBrowse link
G M Naa10 N(alpha)-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:72,960,476...72,965,550
Ensembl chr  X:72,960,479...72,965,550 		JBrowse link
G H NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080 		JBrowse link
G D OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418 		JBrowse link
G H OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032 		JBrowse link
G R Opn1mw opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,905,056...151,925,419
Ensembl chr  X:151,905,096...151,925,388 		JBrowse link
G M Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,171,072...73,194,362
Ensembl chr  X:73,171,070...73,194,366 		JBrowse link
G H OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861 		JBrowse link
G H OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286 		JBrowse link
G G RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,359,313...128,369,070
Ensembl chr  X:128,359,396...128,368,581 		JBrowse link
G P RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,662,957...124,670,522
Ensembl chr  X:124,662,719...124,672,235 		JBrowse link
G S Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:817,392...823,926
Ensembl chrNW_004936809:817,355...823,941 		JBrowse link
G D RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,782,411...121,788,928
Ensembl chr  X:121,727,573...121,788,860 		JBrowse link
G B RENBP renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,490,103...143,499,487
Ensembl chr  X:153,376,847...153,386,214 		JBrowse link
G C Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G R Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,661,463...151,670,538
Ensembl chr  X:151,661,458...151,670,516 		JBrowse link
G M Renbp renin binding protein ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:72,965,727...72,974,408
Ensembl chr  X:72,965,727...72,974,456 		JBrowse link
G H RENBP renin binding protein IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:153,935,269...153,944,643
Ensembl chr  X:153,935,269...153,944,687 		JBrowse link
G N Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:718,330...748,957 JBrowse link
G P TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,828,222...124,840,093
Ensembl chr  X:124,828,225...124,834,315 		JBrowse link
G S Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:1,022,795...1,042,475
Ensembl chrNW_004936809:1,022,795...1,040,120 		JBrowse link
G D TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,987,726...122,030,718
Ensembl chr  X:121,986,906...121,996,306 		JBrowse link
G B TEX28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,711,495...143,736,128 JBrowse link
G C Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:781,339...791,284 JBrowse link
G R Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,922,210...151,955,902
Ensembl chr  X:151,925,526...151,954,567 		JBrowse link
G M Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,194,515...73,211,444
Ensembl chr  X:73,194,550...73,211,444 		JBrowse link
G H TEX28 testis expressed 28 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,271,265...154,295,211
Ensembl chr  X:154,271,265...154,295,853 		JBrowse link
G N Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004624946:760,078...775,073 JBrowse link
G G TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,607,766...128,642,074
Ensembl chr  X:128,607,901...128,642,063 		JBrowse link
G P TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,840,072...124,867,313
Ensembl chr  X:124,839,995...124,867,614 		JBrowse link
G S Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004936809:1,048,672...1,084,125
Ensembl chrNW_004936809:1,048,672...1,083,994 		JBrowse link
G D TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:122,007,270...122,034,500
Ensembl chr  X:122,007,282...122,034,255 		JBrowse link
G B TKTL1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,736,589...143,772,277 JBrowse link
G C Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G R Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:151,954,261...151,987,208
Ensembl chr  X:151,954,175...151,987,208 		JBrowse link
G M Tktl1 transketolase-like 1 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:73,220,865...73,252,104
Ensembl chr  X:73,220,865...73,252,106 		JBrowse link
G H TKTL1 transketolase like 1 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:154,295,795...154,330,350
Ensembl chr  X:154,295,795...154,330,350 		JBrowse link
G G TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:128,396,566...128,406,611
Ensembl chr  X:128,405,488...128,406,273 		JBrowse link
G P TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:124,695,050...124,699,349 JBrowse link
G D TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:121,815,982...121,820,790 JBrowse link
G B TMEM187 transmembrane protein 187 ISO ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:143,527,152...143,533,708
Ensembl chr  X:153,419,802...153,420,587 		JBrowse link
G H TMEM187 transmembrane protein 187 IAGP ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant ClinVar PMID:15689435 PMID:16080119 PMID:28492532 NCBI chr  X:153,972,754...153,983,194
Ensembl chr  X:153,972,754...153,983,194 		JBrowse link
Periventricular Nodular Heterotopia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 chrNW_004624792:3,553,185...3,903,288
Ensembl chrNW_004624792:3,553,004...3,902,468 		JBrowse link
G 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 chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905 		JBrowse link
G P 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 chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,057...162,513,718 		JBrowse link
G S 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 chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		JBrowse link
G D 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 chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
G B 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 chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G C 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 chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714 		JBrowse link
G R 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 chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137 		JBrowse link
G M Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like ISO ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal ClinVar PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 NCBI chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899 		JBrowse link
G H NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal ClinVar PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
Periventricular Nodular Heterotopia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ermard ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chrNW_004624850:5,683,191...5,709,015
Ensembl chrNW_004624850:5,684,312...5,709,584 		JBrowse link
G G ERMARD ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr13:97,558,822...97,592,030 JBrowse link
G P ERMARD ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 1:513,364...540,948
Ensembl chr 1:512,678...540,896 		JBrowse link
G S Ermard ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chrNW_004936489:18,201,790...18,244,810
Ensembl chrNW_004936489:18,203,204...18,236,552 		JBrowse link
G D ERMARD ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr12:71,998,431...72,024,726
Ensembl chr12:71,998,437...72,023,512 		JBrowse link
G B ERMARD ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 6:167,823,630...167,854,200
Ensembl chr 6:172,861,675...172,891,822 		JBrowse link
G C Ermard ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chrNW_004955411:3,838,125...3,866,282
Ensembl chrNW_004955411:3,835,751...3,865,321 		JBrowse link
G R Ermard ER membrane-associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 1:55,983,312...56,004,569
Ensembl chr 1:55,983,403...56,002,687 		JBrowse link
G M Ermard ER membrane associated RNA degradation ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 OMIM
ClinVar		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr17:15,261,825...15,310,307
Ensembl chr17:15,261,470...15,310,306 		JBrowse link
G H ERMARD ER membrane associated RNA degradation IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 6 ClinVar
OMIM		 PMID:24056535 PMID:25741868 PMID:28492532 NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC126862763 CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55982687-55983886 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,315,455...58,316,654 JBrowse link
G H LOC130062568 ATAC-STARR-seq lymphoblastoid silent region 9483 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:58,044,311...58,044,860 JBrowse link
G N 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 chrNW_004624792:3,553,185...3,903,288
Ensembl chrNW_004624792:3,553,004...3,902,468 		JBrowse link
G 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 chr18:21,326,276...21,683,817
Ensembl chr18:21,327,567...21,683,905 		JBrowse link
G P 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 chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,057...162,513,718 		JBrowse link
G S 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 chrNW_004936497:6,106,284...6,318,339
Ensembl chrNW_004936497:6,106,268...6,318,354 		JBrowse link
G D 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 chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
G B 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 chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G C 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 chrNW_004955402:42,339,380...42,688,661
Ensembl chrNW_004955402:42,339,380...42,688,714 		JBrowse link
G R 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 chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137 		JBrowse link
G M Nedd4l neural precursor cell expressed, developmentally down-regulated gene 4-like 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 chr18:65,017,551...65,350,888
Ensembl chr18:65,020,776...65,350,899 		JBrowse link
G H NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP 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 chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
Periventricular Nodular Heterotopia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Arf1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chrNW_004624937:857,795...871,089 JBrowse link
G G ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr25:1,628,836...1,644,502
Ensembl chr25:1,628,751...1,644,499 		JBrowse link
G P ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr 2:51,219,597...51,237,640
Ensembl chr 2:51,219,667...51,237,639 		JBrowse link
G S Arf1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chrNW_004936864:117,510...119,612 JBrowse link
G D ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr14:835,476...836,424
Ensembl chr14:835,476...836,424 		JBrowse link
G B ARF1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr 1:203,484,803...203,501,395
Ensembl chr 1:208,695,615...208,712,105 		JBrowse link
G C Arf1 ADP ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chrNW_004955581:319,942...335,112
Ensembl chrNW_004955581:319,942...335,112 		JBrowse link
G R Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434 		JBrowse link
G M Arf1 ADP-ribosylation factor 1 ISO ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 OMIM
ClinVar		 PMID:25741868 PMID:28868155 NCBI chr11:59,102,237...59,119,042
Ensembl chr11:59,102,238...59,119,096 		JBrowse link
G H ARF1 ADP ribosylation factor 1 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 ClinVar
OMIM		 PMID:25741868 PMID:28868155 NCBI chr 1:228,082,708...228,099,212
Ensembl chr 1:228,082,708...228,099,212 		JBrowse link
G H LOC126806039 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 8 ClinVar PMID:25741868 PMID:28868155 NCBI chr 1:228,097,180...228,098,435 JBrowse link
Periventricular Nodular Heterotopia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129994023 ATAC-STARR-seq lymphoblastoid active region 22644 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 9 ClinVar PMID:29738522 NCBI chr 5:72,194,894...72,194,983 JBrowse link
G N 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 chrNW_004624905:1,198,157...1,304,128
Ensembl chrNW_004624905:1,198,205...1,304,309 		JBrowse link
G 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 4:66,445,687...66,548,595
Ensembl chr 4:66,445,901...66,549,142 		JBrowse link
G P 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 chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885 		JBrowse link
G S 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 chrNW_004936549:4,266,371...4,371,579
Ensembl chrNW_004936549:4,266,351...4,371,644 		JBrowse link
G D 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 2:55,175,000...55,258,160
Ensembl chr 2:55,174,837...55,253,975 		JBrowse link
G B 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 5:43,102,739...43,204,978
Ensembl chr 5:43,701,530...43,803,393 		JBrowse link
G C 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 chrNW_004955575:914,607...1,020,971
Ensembl chrNW_004955575:913,723...1,021,028 		JBrowse link
G R 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 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317 		JBrowse link
G M 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 chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048 		JBrowse link
G H MAP1B microtubule associated protein 1B IAGP 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 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R 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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M 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:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin IAGP 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:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
G N Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chrNW_004624734:4,090,077...4,150,706
Ensembl chrNW_004624734:4,089,986...4,236,776 		JBrowse link
G G EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr24:77,694,931...77,907,574
Ensembl chr24:77,694,971...77,907,909 		JBrowse link
G P EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr 7:120,703,282...120,890,792
Ensembl chr 7:120,703,258...120,890,791 		JBrowse link
G S Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chrNW_004936604:3,498,413...3,662,188
Ensembl chrNW_004936604:3,498,304...3,662,244 		JBrowse link
G D EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr 8:68,139,741...68,295,363
Ensembl chr 8:68,216,857...68,294,080 		JBrowse link
G B EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr14:80,362,837...80,566,996
Ensembl chr14:99,793,812...99,885,359 		JBrowse link
G C Eml1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain OMIM
ClinVar		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chrNW_004955438:20,991,432...21,137,570
Ensembl chrNW_004955438:21,078,760...21,137,926 		JBrowse link
G R Eml1 EMAP like 1 ISO
ISS		 ClinVar Annotator: match by term: Band heterotopia of brain
OMIM:600348
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr 6:127,283,968...127,457,246
Ensembl chr 6:127,284,029...127,457,246 		JBrowse link
G M Eml1 echinoderm microtubule associated protein like 1 ISO
IAGP		 ClinVar Annotator: match by term: Band heterotopia of brain
CTD Direct Evidence: marker/mechanism
OMIM:600348		 OMIM
ClinVar
CTD
MouseDO		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr12:108,337,265...108,505,835
Ensembl chr12:108,337,216...108,505,876 		JBrowse link
G H EML1 EMAP like 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Band heterotopia of brain
OMIM:600348
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:24859200 PMID:25741868 PMID:28492532 PMID:28556411 NCBI chr14:99,737,722...99,942,060
Ensembl chr14:99,737,693...99,942,060 		JBrowse link
G H LOC126862047 BRD4-independent group 4 enhancer GRCh37_chr14:100405395-100406594 IAGP ClinVar Annotator: match by term: Band heterotopia of brain ClinVar PMID:25741868 PMID:28556411 NCBI chr14:99,939,058...99,940,257 JBrowse link
G N 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 chrNW_004624786:5,223,890...5,306,033
Ensembl chrNW_004624786:5,224,982...5,302,436 		JBrowse link
G 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 chr16:2,270,126...2,293,705
Ensembl chr16:2,270,085...2,296,825 		JBrowse link
G P 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 chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834 		JBrowse link
G S 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 chrNW_004936538:8,612,142...8,693,698
Ensembl chrNW_004936538:8,612,049...8,694,015 		JBrowse link
G D 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 chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
G B 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 chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994 		JBrowse link
G C 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 chrNW_004955481:608,897...686,454
Ensembl chrNW_004955481:608,897...686,452 		JBrowse link
G R 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 chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808 		JBrowse link
G M Pafah1b1 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr11:74,564,775...74,615,210
Ensembl chr11:74,564,775...74,615,496 		JBrowse link
G H PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 IAGP ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:1671808 PMID:10441340 PMID:11115846 PMID:11502906 PMID:14581661 More... NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,183...2,685,615 		JBrowse link
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dcx doublecortin ISO DNA:nonsense mutation: :p.R186C (971C>T) (human)
DNA:deletions		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chr  X:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO DNA:nonsense mutation: :p.R186C (971C>T) (human)
DNA:deletions		 RGD PMID:9618162 PMID:19050731 PMID:19098909 RGD:12904718 RGD:12904725 RGD:12904762 NCBI chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R 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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M Dcx doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID:19050731 PMID:9618162 PMID:19098909 RGD:12904718, RGD:12904762, RGD:12904725 NCBI chr  X:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin IAGP
ISO		 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:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624758:6,449,583...6,590,244
Ensembl chrNW_004624758:6,449,629...6,588,664 		JBrowse link
G G ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr12:34,587,123...34,734,936
Ensembl chr12:34,587,118...34,731,642 		JBrowse link
G P ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:246,144,277...246,278,492
Ensembl chr 1:246,144,277...246,278,492 		JBrowse link
G S Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936559:7,177,887...7,312,660
Ensembl chrNW_004936559:7,177,904...7,312,741 		JBrowse link
G D ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496 		JBrowse link
G B ABCA1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:75,948,831...76,096,136
Ensembl chr 9:104,076,516...104,224,188 		JBrowse link
G C Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G R Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G M Abca1 ATP-binding cassette, sub-family A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:53,030,789...53,159,988
Ensembl chr 4:53,030,787...53,159,895 		JBrowse link
G H ABCA1 ATP binding cassette subfamily A member 1 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:104,781,006...104,928,155
Ensembl chr 9:104,781,006...104,928,155 		JBrowse link
G N Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628 		JBrowse link
G G AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		JBrowse link
G P AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109 		JBrowse link
G S Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354 		JBrowse link
G D AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089 		JBrowse link
G B AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G C Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G R Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G M Aqp4 aquaporin 4 IGI RGD PMID:20680099 RGD:5148028 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G H AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G N B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624775:14,992,189...15,066,787
Ensembl chrNW_004624775:14,992,335...15,065,970 		JBrowse link
G G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356 		JBrowse link
G P B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:55,749,409...55,818,738
Ensembl chr14:55,749,473...55,818,004 		JBrowse link
G S B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936484:17,012,403...17,049,519
Ensembl chrNW_004936484:17,012,537...17,049,511 		JBrowse link
G D B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903 		JBrowse link
G B B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060 		JBrowse link
G C B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G R B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G M B3galnt2 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688 		JBrowse link
G H B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G N B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021 		JBrowse link
G G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:7,929,712...7,932,034
Ensembl chr 1:7,929,862...7,932,086 		JBrowse link
G P B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817 		JBrowse link
G S B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936599:3,257,329...3,259,614
Ensembl chrNW_004936599:3,257,329...3,259,719 		JBrowse link
G D B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264 		JBrowse link
G B B4GAT1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678 		JBrowse link
G C B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		JBrowse link
G R B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G M B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		JBrowse link
G H B4GAT1 beta-1,4-glucuronyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G N Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624832:6,957,775...6,966,505
Ensembl chrNW_004624832:6,958,820...6,966,514 		JBrowse link
G G CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:39,957,012...39,966,562
Ensembl chr 6:39,957,320...39,966,581
Ensembl chr24:39,957,320...39,966,581
Ensembl chr14:39,957,320...39,966,581 		JBrowse link
G P CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,506,979...52,516,704
Ensembl chr 6:52,506,674...52,516,703 		JBrowse link
G S Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936664:471,446...480,858
Ensembl chrNW_004936664:471,440...480,441 		JBrowse link
G D CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,284,729...109,294,491
Ensembl chr 1:109,286,155...109,294,391 		JBrowse link
G B CALM3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,593,069...43,602,550
Ensembl chr19:52,121,687...52,131,135 		JBrowse link
G C Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:672,441...680,924
Ensembl chrNW_004955574:672,300...680,924 		JBrowse link
G R Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207 		JBrowse link
G M Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,649,304...16,657,957
Ensembl chr 7:16,649,304...16,658,039 		JBrowse link
G H CALM3 calmodulin 3 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782 		JBrowse link
G N 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 chrNW_004624752:3,426,317...3,537,219
Ensembl chrNW_004624752:3,425,901...3,535,400 		JBrowse link
G 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 chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216 		JBrowse link
G S 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 chrNW_004936629:3,453,384...3,570,250
Ensembl chrNW_004936629:3,455,887...3,568,566 		JBrowse link
G D 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 chr10:19,704,104...19,836,886
Ensembl chr10:19,707,804...19,837,481 		JBrowse link
G B CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 Ensembl chr22:45,428,159...45,604,453 JBrowse link
G C 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 chrNW_004955413:30,455,194...30,561,124
Ensembl chrNW_004955413:30,457,030...30,561,124 		JBrowse link
G R Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
G M Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr15:85,782,959...85,918,424
Ensembl chr15:85,783,130...85,918,404 		JBrowse link
G H CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620 		JBrowse link
G N Col4a1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817 		JBrowse link
G G COL4A1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chr 3:88,410,800...88,564,191
Ensembl chr 3:88,412,168...88,564,057 		JBrowse link
G P COL4A1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G S Col4a1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chrNW_004936472:2,416,043...2,543,561
Ensembl chrNW_004936472:2,416,566...2,542,814 		JBrowse link
G D COL4A1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666 		JBrowse link
G B COL4A1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529 		JBrowse link
G C Col4a1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G R Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412 		JBrowse link
G M Col4a1 collagen, type IV, alpha 1 IAGP OMIM:236670 | OMIM:253280 MouseDO NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826 		JBrowse link
G H COL4A1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G N Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chrNW_004624739:13,813,779...14,114,296
Ensembl chrNW_004624739:13,814,072...14,116,020 		JBrowse link
G G CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr21:41,691,771...42,008,484
Ensembl chr21:41,691,912...42,010,301 		JBrowse link
G P CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 9:85,419,401...85,711,146
Ensembl chr 9:85,422,317...85,710,750 		JBrowse link
G S Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chrNW_004936546:2,658,195...2,945,542
Ensembl chrNW_004936546:2,657,392...2,945,115 		JBrowse link
G D CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr14:30,697,060...30,989,423
Ensembl chr14:30,648,128...30,989,604 		JBrowse link
G B CRPPA CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220 		JBrowse link
G C Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chrNW_004955410:19,359,495...19,614,283
Ensembl chrNW_004955410:19,359,868...19,614,344 		JBrowse link
G R Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G M Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr12:36,430,334...36,739,502
Ensembl chr12:36,431,449...36,739,502 		JBrowse link
G H CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G N Dact3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624832:6,920,984...6,930,391
Ensembl chrNW_004624832:6,921,148...6,929,587 		JBrowse link
G G DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:40,003,475...40,016,690
Ensembl chr 6:40,004,348...40,016,621 		JBrowse link
G P DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,543,737...52,554,258
Ensembl chr 6:52,543,580...52,553,991 		JBrowse link
G S Dact3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936664:505,356...514,313 JBrowse link
G D DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,247,743...109,264,655
Ensembl chr 1:109,248,556...109,255,975 		JBrowse link
G B DACT3 dishevelled binding antagonist of beta catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,639,921...43,653,473 JBrowse link
G R Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630 		JBrowse link
G M Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,609,242...16,621,226
Ensembl chr 7:16,609,242...16,621,387 		JBrowse link
G H DACT3 dishevelled binding antagonist of beta catenin 3 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,647,551...46,661,182
Ensembl chr19:46,647,551...46,661,182 		JBrowse link
G N Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G G DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G P DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G S Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G D DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G B DAG1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G C Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G R Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G M Dag1 dystroglycan 1 IMP
ISO
IGI		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G H DAG1 dystroglycan 1 ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G N Fkrp fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chrNW_004624832:6,849,001...6,858,931
Ensembl chrNW_004624832:6,849,005...6,857,898 		JBrowse link
G G FKRP fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chr 6:40,100,399...40,128,340
Ensembl chr 6:40,126,321...40,127,808 		JBrowse link
G P FKRP fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chr 6:52,627,466...52,639,255
Ensembl chr 6:52,627,471...52,639,253 		JBrowse link
G S Fkrp fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chrNW_004936664:577,109...586,848
Ensembl chrNW_004936664:578,126...586,795 		JBrowse link
G D FKRP fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G B FKRP fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341 		JBrowse link
G C Fkrp fukutin related protein 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: 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 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G R 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 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... RGD:11667969 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G M 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 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... RGD:11667969 NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657 		JBrowse link
G H FKRP fukutin related protein IAGP
EXP		 DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg 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		 ClinVar
CTD
RGD		 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... RGD:11667969 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G N 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chrNW_004624758:5,750,804...5,877,797
Ensembl chrNW_004624758:5,792,514...5,877,709 		JBrowse link
G 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chr12:33,872,165...33,964,105
Ensembl chr12:33,900,362...33,953,377 		JBrowse link
G P 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chr 1:246,852,387...246,916,650 JBrowse link
G S 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chrNW_004936559:6,612,318...6,680,690
Ensembl chrNW_004936559:6,619,531...6,670,727
Ensembl chrNW_004936559:6,619,531...6,670,727 		JBrowse link
G D 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G B 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422 		JBrowse link
G C 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: 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: Walker-Warburg congenital muscular dystrophy		 ClinVar PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		JBrowse link
G R 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: Walker-Warburg syndrome
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:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G M Fktn fukutin ISO
IMP		 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
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:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890 		JBrowse link
G H FKTN fukutin IAGP
EXP
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: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)		 ClinVar
CTD
RGD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G H FKTN-AS1 FKTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome		 ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:25741868 PMID:28492532 NCBI chr 9:105,554,035...105,558,306
Ensembl chr 9:105,554,035...105,558,304 		JBrowse link
G N Fsd1l fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chrNW_004624758:5,887,509...5,956,480
Ensembl chrNW_004624758:5,887,603...5,956,480 		JBrowse link
G G FSD1L fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr12:33,973,416...34,059,379
Ensembl chr12:33,976,030...34,058,808 		JBrowse link
G P FSD1L fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 1:246,768,098...246,847,084
Ensembl chr 1:246,866,709...246,916,643
Ensembl chr 1:246,866,709...246,916,643 		JBrowse link
G S Fsd1l fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chrNW_004936559:6,684,014...6,760,237
Ensembl chrNW_004936559:6,689,891...6,760,243 		JBrowse link
G D FSD1L fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr11:61,316,132...61,389,205
Ensembl chr11:61,316,148...61,388,368 		JBrowse link
G B FSD1L fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 9:76,619,595...76,717,372
Ensembl chr 9:104,761,018...104,837,806 		JBrowse link
G C Fsd1l fibronectin type III and SPRY domain containing 1 like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chrNW_004955419:21,003,234...21,076,163
Ensembl chrNW_004955419:21,003,234...21,068,643 		JBrowse link
G R Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928 		JBrowse link
G M Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 4:53,631,383...53,707,009
Ensembl chr 4:53,631,471...53,707,009 		JBrowse link
G H FSD1L fibronectin type III and SPRY domain containing 1 like IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 9:105,442,177...105,552,433
Ensembl chr 9:105,447,796...105,552,433 		JBrowse link
G N Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624730:3,645,768...3,648,157
Ensembl chrNW_004624730:3,645,768...3,648,165 		JBrowse link
G G GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926 		JBrowse link
G P GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
G S Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400 		JBrowse link
G D GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		JBrowse link
G B GMPPB GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969 		JBrowse link
G C Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900 		JBrowse link
G R Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G M Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000 		JBrowse link
G H GMPPB GDP-mannose pyrophosphorylase B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G N Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624832:6,937,309...6,941,101
Ensembl chrNW_004624832:6,937,339...6,940,735 		JBrowse link
G G GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:39,989,915...39,995,714
Ensembl chr 6:39,989,903...39,990,910 		JBrowse link
G P GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,534,952...52,541,115
Ensembl chr 6:52,534,662...52,536,414 		JBrowse link
G S Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936664:495,823...496,296
Ensembl chrNW_004936664:495,810...497,394 		JBrowse link
G D GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,266,884...109,268,515
Ensembl chr 1:109,268,056...109,268,453 		JBrowse link
G B GNG8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,626,498...43,637,618
Ensembl chr19:52,155,081...52,156,410 		JBrowse link
G C Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:697,254...699,282
Ensembl chrNW_004955574:697,254...699,282 		JBrowse link
G R Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371 		JBrowse link
G M Gng8 guanine nucleotide binding protein (G protein), gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,625,687...16,629,361
Ensembl chr 7:16,625,711...16,629,361 		JBrowse link
G H GNG8 G protein subunit gamma 8 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,633,953...46,639,326
Ensembl chr19:46,633,953...46,636,541 		JBrowse link
G N Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624750:1,190,712...1,524,051
Ensembl chrNW_004624750:1,286,336...1,527,159 		JBrowse link
G G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:16,080,482...16,704,968
Ensembl chr19:16,080,430...16,549,495 		JBrowse link
G P LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532
G S Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936492:6,160,979...6,657,491
Ensembl chrNW_004936492:6,289,517...6,659,465 		JBrowse link
G D LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787 		JBrowse link
G B LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:14,077,463...14,929,250 JBrowse link
G C Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
G R 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 chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G M 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 chr 8:73,541,227...74,080,164
Ensembl chr 8:73,541,227...74,080,168 		JBrowse link
G H LARGE1 LARGE xylosyl- and glucuronyltransferase 1 EXP
IAGP		 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 chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G P LOC102159820 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 5:3,114,410...3,203,378
Ensembl chr 5:2,980,351...3,203,381 		JBrowse link
G H LOC130002286 ATAC-STARR-seq lymphoblastoid active region 28743 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 9:105,557,992...105,558,041 JBrowse link
G H LOC130002287 ATAC-STARR-seq lymphoblastoid active region 28744 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 9:105,558,202...105,558,391 JBrowse link
G N Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004624906:2,120,759...2,131,024
Ensembl chrNW_004624906:2,119,684...2,135,656 		JBrowse link
G G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G P POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G S Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G D POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G B POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G C Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 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: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G R 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: 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		 MouseDO
ClinVar
CTD
RGD		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G M Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO
IAGP		 DNA:missense mutations, nonsense mutation: :multiple
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: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
OMIM:236670 | OMIM:253280
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple		 ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G H POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP
ISS
EXP		 DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple		 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 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G N Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chrNW_004624730:76,811,200...76,832,299
Ensembl chrNW_004624730:76,818,751...76,832,291 		JBrowse link
G 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 chr22:4,521,925...4,548,431 JBrowse link
G P POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26060116 RGD:11532770 NCBI chr13:26,503,610...26,526,185
Ensembl chr13:26,523,983...26,526,133 		JBrowse link
G S Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chrNW_004936695:2,117,506...2,141,859
Ensembl chrNW_004936695:2,139,661...2,141,403 		JBrowse link
G D POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214 		JBrowse link
G B POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:26060116 RGD:11532770 NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557 		JBrowse link
G C Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chrNW_004955420:27,884,262...27,899,293
Ensembl chrNW_004955420:27,884,303...27,899,293 		JBrowse link
G R Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G M Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chr 9:121,810,675...121,825,116
Ensembl chr 9:121,810,672...121,826,176 		JBrowse link
G H POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G N Pomk protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624992:196,792...222,638
Ensembl chrNW_004624992:196,645...218,123 		JBrowse link
G G POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:41,102,872...41,137,866
Ensembl chr 8:41,098,891...41,131,309 		JBrowse link
G P POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:11,957,615...11,978,919 JBrowse link
G S Pomk protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936570:335,668...354,839
Ensembl chrNW_004936570:331,211...347,631 		JBrowse link
G D POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:22,699,552...22,722,773
Ensembl chr16:22,701,736...22,719,229 		JBrowse link
G B POMK protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239 		JBrowse link
G C Pomk protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
G R Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G M Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:26,470,632...26,484,149
Ensembl chr 8:26,470,632...26,484,161 		JBrowse link
G H POMK protein O-mannose kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G N Pomt1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004624760:4,494,701...4,508,735
Ensembl chrNW_004624760:4,495,254...4,508,616 		JBrowse link
G G POMT1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr12:6,620,179...6,639,051
Ensembl chr12:6,618,312...6,639,024 		JBrowse link
G P POMT1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,452,461 		JBrowse link
G S Pomt1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004936487:18,249,472...18,267,875
Ensembl chrNW_004936487:18,249,472...18,267,256 		JBrowse link
G D POMT1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G B POMT1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G C Pomt1 protein O-mannosyltransferase 1 ISO 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		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933 		JBrowse link
G R 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:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G M 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:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 2:32,126,321...32,145,017
Ensembl chr 2:32,126,602...32,145,017 		JBrowse link
G H POMT1 protein O-mannosyltransferase 1 IAGP
EXP		 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: 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: Pagon syndrome | 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:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G N Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chrNW_004624734:24,595,748...24,636,845
Ensembl chrNW_004624734:24,595,702...24,636,937 		JBrowse link
G G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
G P POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G S Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chrNW_004936488:6,102,612...6,141,842
Ensembl chrNW_004936488:6,102,524...6,141,875 		JBrowse link
G D POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
G B POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G C Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
G R Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
ClinVar Annotator: match by term: Pagon syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G M Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
ClinVar Annotator: match by term: Pagon syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr12:87,153,635...87,194,742
Ensembl chr12:87,153,635...87,194,742 		JBrowse link
G H POMT2 protein O-mannosyltransferase 2 IAGP
EXP		 DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
ClinVar Annotator: match by term: Pagon syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G N Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624832:6,885,627...6,915,316
Ensembl chrNW_004624832:6,886,327...6,915,179 		JBrowse link
G G PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:40,028,214...40,071,523
Ensembl chr 6:40,027,552...40,071,455 		JBrowse link
G P PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,559,066...52,599,174
Ensembl chr 6:52,559,393...52,599,132 		JBrowse link
G S Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936664:524,532...551,451
Ensembl chrNW_004936664:522,910...551,469 		JBrowse link
G D PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,206,400...109,241,529
Ensembl chr 1:109,207,067...109,330,007 		JBrowse link
G B PRKD2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,666,591...43,710,858
Ensembl chr19:52,195,303...52,237,731 		JBrowse link
G C Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:723,933...750,794
Ensembl chrNW_004955574:723,933...750,793 		JBrowse link
G R Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376 		JBrowse link
G M Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,576,827...16,604,386
Ensembl chr 7:16,576,827...16,604,389 		JBrowse link
G H PRKD2 protein kinase D2 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127 		JBrowse link
G N Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624832:6,948,638...6,952,664
Ensembl chrNW_004624832:6,948,572...6,952,719 		JBrowse link
G G PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:39,977,057...39,983,592
Ensembl chr 6:39,977,864...39,980,860 		JBrowse link
G P PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,522,639...52,527,338
Ensembl chr 6:52,522,638...52,527,345 		JBrowse link
G S Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936664:487,069...489,328
Ensembl chrNW_004936664:487,125...489,414 		JBrowse link
G D PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,275,198...109,279,463
Ensembl chr 1:109,274,988...109,277,584 		JBrowse link
G B PTGIR prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,613,065...43,617,700
Ensembl chr19:52,141,822...52,146,473 		JBrowse link
G C Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:686,156...690,126
Ensembl chrNW_004955574:687,583...689,750 		JBrowse link
G R Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979 		JBrowse link
G M Ptgir prostaglandin I receptor (IP) ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,640,442...16,644,828
Ensembl chr 7:16,640,415...16,644,830 		JBrowse link
G H PTGIR prostaglandin I2 receptor IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,610,687...46,625,089
Ensembl chr19:46,620,468...46,625,089 		JBrowse link
G N Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chrNW_004624802:4,510,164...4,533,305
Ensembl chrNW_004624802:4,509,884...4,533,356 		JBrowse link
G G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr11:59,468,720...59,498,425
Ensembl chr11:59,468,714...59,500,249 		JBrowse link
G P RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr 5:28,247,409...28,276,276
Ensembl chr 5:28,247,412...28,276,273 		JBrowse link
G S Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chrNW_004936545:2,226,238...2,247,971
Ensembl chrNW_004936545:2,226,232...2,247,976 		JBrowse link
G D RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr10:6,630,076...6,648,387 JBrowse link
G B RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872 		JBrowse link
G C Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chrNW_004955458:10,649,364...10,674,913
Ensembl chrNW_004955458:10,648,471...10,676,813 		JBrowse link
G R 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 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
G M 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 chr10:121,916,844...121,933,271
Ensembl chr10:121,914,019...121,933,276 		JBrowse link
G H RXYLT1 ribitol xylosyltransferase 1 EXP
IAGP		 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 chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G N Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624758:5,963,281...6,152,870
Ensembl chrNW_004624758:5,960,094...6,151,653 		JBrowse link
G G SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr12:34,068,642...34,261,635
Ensembl chr12:34,067,318...34,261,402 		JBrowse link
G P SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:246,548,461...246,760,527
Ensembl chr 1:246,548,497...246,760,514 		JBrowse link
G S Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936559:6,766,307...6,903,286
Ensembl chrNW_004936559:6,818,459...6,904,139 		JBrowse link
G D SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr11:61,120,858...61,313,250
Ensembl chr11:61,120,176...61,312,590 		JBrowse link
G B SLC44A1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:76,417,869...76,612,233
Ensembl chr 9:104,597,755...104,737,620 		JBrowse link
G C Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955419:21,092,583...21,277,294
Ensembl chrNW_004955419:21,092,380...21,231,070 		JBrowse link
G R Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909 		JBrowse link
G M Slc44a1 solute carrier family 44, member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478 		JBrowse link
G H SLC44A1 solute carrier family 44 member 1 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:105,244,651...105,438,504
Ensembl chr 9:105,244,622...105,439,171 		JBrowse link
G N Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004624832:6,858,107...6,883,514
Ensembl chrNW_004624832:6,858,123...6,883,514 		JBrowse link
G G STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:40,073,924...40,100,822
Ensembl chr 6:40,075,007...40,100,885 		JBrowse link
G P STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 6:52,601,934...52,627,910
Ensembl chr 6:52,601,938...52,627,902 		JBrowse link
G S Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004936664:553,682...574,240
Ensembl chrNW_004936664:553,878...570,732 		JBrowse link
G D STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591 		JBrowse link
G B STRN4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:43,711,834...43,738,742
Ensembl chr19:52,240,880...52,260,241 		JBrowse link
G C Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:752,848...771,664
Ensembl chrNW_004955574:752,848...771,666 		JBrowse link
G R Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
G M Strn4 striatin, calmodulin binding protein 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 7:16,549,814...16,574,856
Ensembl chr 7:16,549,814...16,574,856 		JBrowse link
G H STRN4 striatin 4 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,719,511...46,746,450
Ensembl chr19:46,719,511...46,746,994 		JBrowse link
G N Tal2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004624758:5,750,458...5,755,861
Ensembl chrNW_004624758:5,747,765...5,863,612 		JBrowse link
G P TAL2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 1:246,932,975...246,944,722
Ensembl chr 1:246,933,241...246,942,163 		JBrowse link
G D TAL2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr11:61,425,927...61,484,525
Ensembl chr11:61,456,727...61,482,348 		JBrowse link
G B TAL2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More...
G C Tal2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004955419:20,899,292...20,907,288
Ensembl chrNW_004955419:20,897,718...20,906,421 		JBrowse link
G R Tal2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569 		JBrowse link
G M Tal2 T cell acute lymphocytic leukemia 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 4:53,779,701...53,788,712
Ensembl chr 4:53,779,705...53,788,712 		JBrowse link
G H TAL2 TAL bHLH transcription factor 2 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 9:105,662,457...105,663,124
Ensembl chr 9:105,662,457...105,663,124 		JBrowse link
G N Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004624758:5,664,287...5,720,061
Ensembl chrNW_004624758:5,662,661...5,719,865 		JBrowse link
G G TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr12:33,759,311...33,840,357
Ensembl chr12:33,759,157...33,840,009 		JBrowse link
G P TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 1:246,973,447...247,024,019
Ensembl chr 1:246,973,436...247,027,527 		JBrowse link
G S Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004936559:6,501,890...6,553,446
Ensembl chrNW_004936559:6,500,190...6,553,513 		JBrowse link
G D TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr11:61,511,756...61,561,987
Ensembl chr11:61,511,750...61,560,556 		JBrowse link
G B TMEM38B transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 9:76,854,177...76,938,334
Ensembl chr 9:104,980,935...105,128,988 		JBrowse link
G C Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004955419:20,811,931...20,844,420
Ensembl chrNW_004955419:20,812,702...20,878,599 		JBrowse link
G R Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
G M Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 4:53,825,988...53,862,019
Ensembl chr 4:53,826,045...53,862,019 		JBrowse link
G H TMEM38B transmembrane protein 38B IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 9:105,694,541...105,776,629
Ensembl chr 9:105,694,541...105,776,629 		JBrowse link
G N 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004624906:2,108,324...2,118,571
Ensembl chrNW_004624906:2,113,726...2,119,505 		JBrowse link
G 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr20:86,599,933...86,613,244
Ensembl chr20:86,599,214...86,605,426 		JBrowse link
G P 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G S 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015 		JBrowse link
G D 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
G B 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G C 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
G R 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G M 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 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G H TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		JBrowse link
X-linked lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dcx doublecortin ISO 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 chrNW_004624803:4,168,556...4,304,642
Ensembl chrNW_004624803:4,168,556...4,299,979 		JBrowse link
G G DCX doublecortin ISO 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:99,106,291...99,220,479
Ensembl chr  X:99,120,505...99,220,237 		JBrowse link
G P DCX doublecortin ISO 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:91,317,671...91,644,572
Ensembl chr  X:91,323,764...91,644,567 		JBrowse link
G S Dcx doublecortin ISO 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 chrNW_004936499:3,905,262...4,004,457
Ensembl chrNW_004936499:3,903,376...4,005,508 		JBrowse link
G D DCX doublecortin ISO 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:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G B DCX doublecortin ISO 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:100,411,871...100,529,833
Ensembl chr  X:110,875,032...110,988,582 		JBrowse link
G C Dcx doublecortin ISO 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 chrNW_004955490:4,354,307...4,469,055
Ensembl chrNW_004955490:4,354,307...4,469,055 		JBrowse link
G R Dcx doublecortin ISO 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:107,430,767...107,573,612
Ensembl chr  X:107,430,767...107,507,476 		JBrowse link
G M Dcx doublecortin ISO 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:142,638,838...142,716,392
Ensembl chr  X:142,638,838...142,716,307 		JBrowse link
G H DCX doublecortin IAGP ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation ClinVar
OMIM		 PMID:9489699 PMID:9489700 PMID:9618162 PMID:9989615 PMID:10369164 More... NCBI chr  X:111,293,779...111,412,192
Ensembl chr  X:111,293,779...111,412,429 		JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chrNW_004624897:1,279,138...1,303,210 JBrowse link
G 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chr  X:23,499,791...23,518,333
Ensembl chr  X:23,500,454...23,511,524 		JBrowse link
G P 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chr  X:21,067,631...21,079,850
Ensembl chr  X:21,067,621...21,079,723 		JBrowse link
G S 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chrNW_004936836:295,090...306,756
Ensembl chrNW_004936836:295,664...306,756 		JBrowse link
G D 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chr  X:20,545,346...20,556,206
Ensembl chr  X:20,545,346...20,556,206 		JBrowse link
G B 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chr  X:17,598,858...17,612,544 JBrowse link
G C 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 OMIM
ClinVar		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... NCBI chrNW_004955509:5,326,145...5,338,250 JBrowse link
G R Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
DNA:mutations:multiple (human)		 OMIM
CTD
ClinVar
RGD		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:58,016,233...58,028,149
Ensembl chr  X:58,016,233...58,028,142 		JBrowse link
G M Arx aristaless related homeobox ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
DNA:mutations:multiple (human)		 OMIM
CTD
ClinVar
RGD		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:92,330,113...92,341,963
Ensembl chr  X:92,330,051...92,341,963 		JBrowse link
G H ARX aristaless related homeobox IAGP
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia		 ClinVar
CTD
OMIM
RGD		 PMID:11889467 PMID:11891829 PMID:12379852 PMID:12874405 PMID:12874418 More... RGD:11565832 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G H LOC109610631 aristaless related homeobox polyalanine expansion region IAGP ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia ClinVar PMID:11889467 PMID:12379852 PMID:12874418 PMID:17664401 PMID:18414213 More... NCBI chr  X:25,013,530...25,013,697 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175454
    disease of anatomical entity 168442
      nervous system disease 143041
        Nervous System Malformations 24162
          complex cortical dysplasia with other brain malformations 16325
            Malformations of Cortical Development, Group II 1904
              Periventricular Laminar Heterotopia 10
              lissencephaly + 1173
              periventricular nodular heterotopia + 731
Path 2
Term Annotations click to browse term
  disease 175454
    Developmental Disease 147731
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 135799
        genetic disease 131945
          monogenic disease 108583
            autosomal genetic disease 99984
              autosomal dominant disease 142935
                complex cortical dysplasia with other brain malformations 16325
                  Malformations of Cortical Development, Group II 1904
                    Periventricular Laminar Heterotopia 10
                    lissencephaly + 1173
                    periventricular nodular heterotopia + 731
paths to the root