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lissencephaly - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:lissencephaly
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Accession:DOID:0050453 term browser browse the term
Definition:A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO)
Synonyms:exact_synonym: Broad Gyri of Cerebrum;   ILS;   LISSENCEPHALY SEQUENCE, ISOLATED;   Large Gyri of Cerebrum;   Lissencephalia;   Lissencephalies;   Pachygyria;   Pachygyrias;   agyria;   agyrias;   macrogyria;   macrogyrias
 narrow_synonym: LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA;   LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA;   SBH;   SCLH;   lissencephaly, dominant;   lissencephaly, recessive;   posterior predominant lissencephaly;   subcortical band heterotopia
 xref: EFO:0011063;   GARD:12291;   ICD10CM:Q04.3;   ICD10CM:Q04.8;   MESH:D054082;   MIM:PS607432;   MONDO:0018838;   NCI:C103921;   ORDO:102009;   ORDO:48471

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show annotations for term's descendants           Sort by:
lissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:22366783 PMID:25741868 PMID:27240540 PMID:28492532 PMID:29671837 NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328 		JBrowse link
G ADGRG1 adhesion G protein-coupled receptor G1 ISO ClinVar Annotator: match by term: Lissencephaly, Recessive ClinVar NCBI chr 2:58,805,737...58,842,618
Ensembl chr 2:58,805,834...58,852,684 		JBrowse link
G 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 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 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 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 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 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 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 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Macrogyria ClinVar PMID:23603762 PMID:25140959 PMID:25326635 PMID:25609763 PMID:25741868 More... NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G KIF21B kinesin family member 21B ISO ClinVar Annotator: match by term: Macrogyria ClinVar PMID:25741868 NCBI chr 7:2,185,040...2,231,046
Ensembl chr 7:2,184,733...2,231,058 		JBrowse link
G 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 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 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 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 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 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 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 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 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 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 PDZD2 PDZ domain containing 2 ISO ClinVar Annotator: match by term: Lissencephaly ClinVar PMID:25741868 NCBI chr 4:75,336,023...75,564,980
Ensembl chr 4:75,338,791...75,564,599 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple RGD PMID:17559086 RGD:11065022 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G 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 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 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 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 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 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 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
autosomal recessive intellectual developmental disorder 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRADD CASP2 and RIPK1 domain containing adaptor with death domain ISO ClinVar Annotator: match by term: CRADD-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY OMIM
ClinVar		 PMID:22279524 PMID:25741868 PMID:27773430 PMID:28492532 PMID:30167849 More... NCBI chr15:33,873,600...34,052,498
Ensembl chr15:33,878,467...34,092,094 		JBrowse link
autosomal recessive intellectual developmental disorder 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIDD1 p53-induced death domain protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly | ClinVar Annotator: match by term: PIDD1-related disorder OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28397838 PMID:28492532 PMID:29302074 More... NCBI chr18:45,168,244...45,174,085
Ensembl chr18:45,168,245...45,173,107 		JBrowse link
Baraitser-Winter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome | ClinVar Annotator: match by term: Cerebrofrontofacial syndrome ClinVar PMID:1415343 PMID:2786228 PMID:9714430 PMID:10327243 PMID:12325076 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G 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
Baraitser-Winter syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO ClinVar Annotator: match by term: 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:2786228 PMID:3445035 PMID:9536098 PMID:9714430 More... NCBI chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
G 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 AP5Z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,847,699...12,858,769
Ensembl chr 6:12,847,713...12,858,681 		JBrowse link
G FBXL18 F-box and leucine rich repeat protein 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,434,983...12,479,702
Ensembl chr 6:12,435,115...12,475,292 		JBrowse link
G FSCN1 fascin actin-bundling protein 1 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,360,849...12,370,906
Ensembl chr 6:12,354,599...12,370,808 		JBrowse link
G LOC479761 monocyte to macrophage differentiation factor 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,718,243...12,845,186
Ensembl chr 6:12,717,693...12,845,196 		JBrowse link
G PAPOLB poly(A) polymerase beta ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,792,167...12,795,557 JBrowse link
G RBAK RB associated KRAB zinc finger ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,072,465...12,097,422
Ensembl chr 6:12,073,368...12,093,811 		JBrowse link
G RNF216 ring finger protein 216 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,185,870...12,347,461
Ensembl chr 6:12,185,846...12,361,869 		JBrowse link
G SLC29A4 solute carrier family 29 member 4 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,607,708...12,634,572
Ensembl chr 6:12,608,713...12,622,478 		JBrowse link
G TNRC18 trinucleotide repeat containing 18 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,520,979...12,606,489
Ensembl chr 6:12,520,770...12,605,859 		JBrowse link
G WIPI2 WD repeat domain, phosphoinositide interacting 2 ISO ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 ClinVar PMID:27633570 PMID:28128450 PMID:28492532 PMID:31898838 NCBI chr 6:12,656,469...12,698,623
Ensembl chr 6:12,658,239...12,698,734 		JBrowse link
Baraitser-Winter syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: 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
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839 		JBrowse link
Classical Lissencephalies and Subcortical Band Heterotopias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO DNA:missense mutation:exon:p.D262G (c.785A>G) (human)
DNA:missense mutation:exon:p.A71S (211G>T) (human)
DNA:missense mutations: :multiple
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11071144 PMID:12838518 PMID:27292316 RGD:11568595 RGD:12904728 RGD:12904735 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G 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 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 PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Lissencephaly/Subcortical Band Heterotopia ClinVar PMID:25741868 NCBI chr 9:46,648,057...46,731,259
Ensembl chr 9:46,648,052...46,771,400 		JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G 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
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:23877401 PMID:25558065 NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G EP300 E1A binding protein p300 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:25741868 NCBI chr10:24,076,538...24,156,708
Ensembl chr10:24,077,971...24,156,396 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Cerebroocular dysplasia muscular dystrophy 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:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		 ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RXYLT1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr10:6,630,076...6,648,387 JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 More... NCBI chr 4:4,434,987...4,489,844
Ensembl chr 4:4,433,871...4,490,903 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:25741868 PMID:26663670 PMID:28492532 PMID:33290285 NCBI chr 4:4,490,892...4,569,401
Ensembl chr 4:4,490,994...4,569,357 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, 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 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 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 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 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 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
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID: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 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 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 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 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 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 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 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 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
congenital muscular dystrophy-dystroglycanopathy type A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: 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
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 OMIM
ClinVar		 PMID: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 TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:6368217 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 More... NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
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 1:109,176,955...109,203,875
Ensembl chr 1:109,176,983...109,202,591 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 OMIM
ClinVar		 PMID: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
congenital muscular dystrophy-dystroglycanopathy type A7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKMY2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: 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 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 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 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 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
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr23:2,584,813...2,619,204
Ensembl chr23:2,586,678...2,737,583 		JBrowse link
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 chr23:11,904,020...11,962,291
Ensembl chr23:11,960,981...11,962,135 		JBrowse link
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 chr23:2,678,659...2,900,490
Ensembl chr23:2,678,615...2,902,431 		JBrowse link
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 chr23:11,835,075...11,886,892
Ensembl chr23:11,820,749...11,873,713 		JBrowse link
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 chr23:11,414,254...11,419,990
Ensembl chr23:11,414,249...11,454,198 		JBrowse link
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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		JBrowse link
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 chr23:11,965,685...11,968,994
Ensembl chr23:11,967,341...11,968,846 		JBrowse link
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 chr23:12,019,079...12,085,993
Ensembl chr23:12,034,221...12,085,293 		JBrowse link
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 chr23:11,820,645...11,839,250
Ensembl chr23:11,820,749...11,873,713 		JBrowse link
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 chr23:11,893,117...11,903,934 JBrowse link
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 chr23:11,812,268...11,820,426
Ensembl chr23:11,813,550...11,820,420 		JBrowse link
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 chr23:11,526,560...11,540,724
Ensembl chr23:11,526,697...11,540,554 		JBrowse link
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 chr23:11,728,841...11,780,306
Ensembl chr23:11,728,994...11,778,626 		JBrowse link
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 chr23:12,094,306...12,235,491
Ensembl chr23:12,094,778...12,143,214 		JBrowse link
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 chr23:11,679,576...11,708,047
Ensembl chr23:11,684,002...11,706,184 		JBrowse link
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 chr23:2,909,311...2,966,098
Ensembl chr23:2,909,298...2,965,508 		JBrowse link
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 chr23:11,713,801...11,717,025
Ensembl chr23:11,713,906...11,716,896 		JBrowse link
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 chr23:11,221,008...11,383,242
Ensembl chr23:11,266,216...11,381,177 		JBrowse link
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 chr23:10,578,391...11,176,543
Ensembl chr23:10,578,429...11,176,545 		JBrowse link
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 chr23:11,635,809...11,666,926
Ensembl chr23:11,635,394...11,666,936 		JBrowse link
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 chr23:11,783,718...11,799,394
Ensembl chr23:11,785,371...11,796,348 		JBrowse link
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 chr23:11,979,768...11,994,226
Ensembl chr23:11,979,740...11,986,393 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: DAG1-related condition | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 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
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
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 chr11:61,394,002...61,462,056
Ensembl chr11:61,405,034...61,461,396 		JBrowse link
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 chr 5:34,781,364...34,808,277
Ensembl chr 5:34,781,367...34,806,850 		JBrowse link
lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical band heterotopia ClinVar PMID:10915612 PMID:25140959 PMID:25741868 PMID:28953922 NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
G 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 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
lissencephaly 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: CEP85L-related condition | ClinVar Annotator: match by term: Lissencephaly 10 OMIM
ClinVar		 PMID:12910438 PMID: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 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
lissencephaly 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 ISO ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation ClinVar PMID:10873396 PMID:22412862 PMID:25741868 PMID:28492532 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128 		JBrowse link
G 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 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
lissencephaly 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31389005 More... NCBI chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Lissencephaly 4 | ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) | ClinVar Annotator: match by term: NDE1-related condition OMIM
ClinVar		 PMID:18414213 PMID:21529751 PMID:21529752 PMID:24033266 PMID:25326635 More... NCBI chr 6:28,143,244...28,186,069
Ensembl chr 6:28,143,244...28,186,051 		JBrowse link
lissencephaly 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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
lissencephaly 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KATNB1 katanin regulatory subunit B1 ISO ClinVar Annotator: match by term: KATNB1-related condition | ClinVar Annotator: match by term: Lissencephaly 6 with microcephaly OMIM
ClinVar		 PMID:25521378 PMID:25521379 PMID:25741868 PMID:28492532 NCBI chr 2:58,734,875...58,755,515
Ensembl chr 2:58,734,893...58,755,477 		JBrowse link
lissencephaly 7 with cerebellar hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDK5 cyclin dependent kinase 5 ISO ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia OMIM
ClinVar		 PMID:25560765 PMID:25741868 NCBI chr16:15,105,177...15,113,085
Ensembl chr16:15,101,230...15,109,269 		JBrowse link
lissencephaly 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 ISO ClinVar Annotator: match by term: Lissencephaly 8 | ClinVar Annotator: match by term: TMTC3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27773428 PMID:28097321 PMID:28492532 PMID:28973161 NCBI chr15:29,280,423...29,350,449
Ensembl chr15:29,298,078...29,350,553 		JBrowse link
lissencephaly 9 with complex brainstem malformation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MACF1 microtubule actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia OMIM
ClinVar		 PMID:24507697 PMID:25741868 PMID:28492532 PMID:29706646 PMID:30471716 More... NCBI chr15:3,361,887...3,703,891
Ensembl chr15:3,362,867...3,573,325 		JBrowse link
Lissencephaly and Agenesis of Corpus Callosum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked ClinVar PMID:9489699 PMID:9489700 PMID: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
microlissencephaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Microlissencephaly ClinVar NCBI chr 9:45,860,200...45,875,439
Ensembl chr 9:45,859,455...45,875,439 		JBrowse link
Miller-Dieker lissencephaly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPH1 diphthamide biosynthesis 1 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 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 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 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 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 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
Norman-Roberts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr18:16,866,795...16,894,143
Ensembl chr18:16,887,901...16,893,857 		JBrowse link
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 chr18:16,894,240...16,906,988
Ensembl chr18:16,894,276...16,906,979 		JBrowse link
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 chr18:16,845,593...16,859,010
Ensembl chr18:16,845,594...16,858,911 		JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type) | ClinVar Annotator: match by term: Lissencephaly syndrome Norman-Roberts type | 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 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
Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSMD3 CUB and Sushi multiple domains 3 ISO ClinVar Annotator: match by term: Kuzniecky syndrome ClinVar PMID:25741868 NCBI chr13:12,401,118...13,570,464
Ensembl chr13:12,401,565...13,569,798 		JBrowse link
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBGCP2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures | ClinVar Annotator: match by term: TUBGCP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31630790 PMID:32368696 PMID:33458610 NCBI chr28:40,865,742...40,881,105
Ensembl chr28:40,865,748...40,881,119 		JBrowse link
subcortical band heterotopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO 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 EML1 EMAP like 1 ISO ClinVar Annotator: match by term: Band heterotopia of brain | ClinVar Annotator: match by term: EML1-related condition 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 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
Subcortical Band Heterotopia, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO DNA:deletions
DNA:nonsense mutation: :p.R186C (971C>T) (human)		 RGD PMID: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
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 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 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 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 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 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 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 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 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 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 DDX3X DEAD-box helicase 3 X-linked ISO ClinVar Annotator: match by term: Chemke syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:35,759,367...35,789,759
Ensembl chr  X:35,759,416...35,789,774 		JBrowse link
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 1:109,166,527...109,177,393
Ensembl chr 1:109,168,644...109,178,319 		JBrowse link
G FKTN fukutin ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy		 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 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 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 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 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 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 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 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 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:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg 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 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 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 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 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 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 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 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 TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease | 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
X-linked lissencephaly 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCX doublecortin ISO ClinVar Annotator: match by term: DCX-related condition | ClinVar Annotator: match by term: Lissencephaly type 1 due to doublecortin gene mutation OMIM
ClinVar		 PMID:9489699 PMID:9489700 PMID:9618162 PMID:9989615 PMID:10369164 More... NCBI chr  X:84,408,762...84,541,157
Ensembl chr  X:84,408,895...84,517,827 		JBrowse link
X-linked lissencephaly 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARX aristaless related homeobox ISO ClinVar Annotator: match by term: Hydranencephaly with abnormal genitalia | ClinVar Annotator: match by term: X-linked lissencephaly with abnormal genitalia 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15755
    physical disorder 5129
      congenital nervous system abnormality 1533
        lissencephaly 130
          Baraitser-Winter syndrome + 12
          CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY 1
          Classical Lissencephalies and Subcortical Band Heterotopias + 6
          Cobblestone Lissencephaly + 71
          Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 0
          Frontotemporal Pachygyria 0
          Massa Casaer Ceulemans Syndrome 0
          Miller-Dieker lissencephaly syndrome 6
          Norman-Roberts syndrome 5
          Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 1
          Partial Lissencephaly 0
          Winter Harding Hyde Syndrome 0
          autosomal recessive intellectual developmental disorder 34 1
          autosomal recessive intellectual developmental disorder 75 1
          lissencephaly 1 3
          lissencephaly 10 2
          lissencephaly 3 + 3
          lissencephaly 5 2
          lissencephaly 7 with cerebellar hypoplasia 1
          lissencephaly 8 1
          lissencephaly 9 with complex brainstem malformation 1
          microlissencephaly + 4
          pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
Path 2
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  disease 15755
    Developmental Disease 13760
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12837
        genetic disease 12534
          monogenic disease 10710
            autosomal genetic disease 10247
              autosomal dominant disease 6669
                complex cortical dysplasia with other brain malformations 1642
                  Malformations of Cortical Development, Group II 207
                    lissencephaly 130
                      Baraitser-Winter syndrome + 12
                      CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY 1
                      Classical Lissencephalies and Subcortical Band Heterotopias + 6
                      Cobblestone Lissencephaly + 71
                      Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 0
                      Frontotemporal Pachygyria 0
                      Massa Casaer Ceulemans Syndrome 0
                      Miller-Dieker lissencephaly syndrome 6
                      Norman-Roberts syndrome 5
                      Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 1
                      Partial Lissencephaly 0
                      Winter Harding Hyde Syndrome 0
                      autosomal recessive intellectual developmental disorder 34 1
                      autosomal recessive intellectual developmental disorder 75 1
                      lissencephaly 1 3
                      lissencephaly 10 2
                      lissencephaly 3 + 3
                      lissencephaly 5 2
                      lissencephaly 7 with cerebellar hypoplasia 1
                      lissencephaly 8 1
                      lissencephaly 9 with complex brainstem malformation 1
                      microlissencephaly + 4
                      pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 1
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