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
Accession: DOID:0050453
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: Agyria; Broad Gyri of Cerebrum; ILS; LISSENCEPHALY SEQUENCE, ISOLATED; Large Gyri of Cerebrum; Lissencephalia; Lissencephalies; Pachygyria; Pachygyrias; agyrias; macrogyria; macrogyrias
narrow_synonym: LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA; LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA; POSTERIOR PREDOMINANT LISSENCEPHALY; SBH; SCLH; lissencephaly, dominant; lissencephaly, recessive; subcortical band heterotopia
primary_id: MESH:D054082
xref: EFO:0011063 ; GARD:12291 ; ICD10CM:Q04.3 ; ICD10CM:Q04.8 ; NCI:C103921 ; OMIM:PS607432 ; ORDO:102009 ; ORDO:48471
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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
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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
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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
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:15793586 PMID:16900296 PMID:20301772 PMID:20522431 PMID:25741868 PMID:28492532 PMID:34958143 PMID:35229910 More...
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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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
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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
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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
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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 PMID:28492532 PMID:29671837 More...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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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 PMID:28135719 PMID:28196890 PMID:28492532 PMID:29671837 PMID:33818783 PMID:36175372 More...
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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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
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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
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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
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Mir484
microRNA 484
ISO
ClinVar Annotator: match by term: Lissencephaly, Recessive
ClinVar
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
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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 PMID:28166811 PMID:28492532 PMID:28679693 PMID:30122538 PMID:31664448 More...
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nbn
nibrin
ISO
ClinVar Annotator: match by term: Lissencephaly
ClinVar
PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11953735 PMID:12123493 PMID:12505263 PMID:12833396 PMID:12845677 PMID:14973119 PMID:15185344 PMID:15279809 PMID:16033915 PMID:16544999 PMID:17103455 PMID:18606567 PMID:18940477 PMID:19635536 PMID:19908051 PMID:20444919 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22941933 PMID:23317186 PMID:24033266 PMID:24113799 PMID:25485873 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26467025 PMID:26822949 PMID:26845104 PMID:27150568 PMID:27616075 PMID:28492532 PMID:28873162 PMID:29368341 PMID:29419426 PMID:30426508 PMID:31173646 PMID:32295079 PMID:33050356 PMID:33471974 PMID:33471991 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34544220 PMID:35309086 More...
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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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 PMID:28166811 PMID:28492532 PMID:28679693 PMID:30122538 PMID:31664448 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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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 PMID:9817918 PMID:9860301 PMID:10441340 PMID:10583396 PMID:10727864 PMID:11115846 PMID:11502906 PMID:12885786 PMID:12885796 PMID:14581661 PMID:15007136 PMID:17576681 PMID:17664403 PMID:18414213 PMID:19667223 PMID:19808989 PMID:21410694 PMID:24088041 PMID:25140959 PMID:25326635 PMID:25741868 PMID:26494205 PMID:26633545 PMID:27891766 PMID:28492532 PMID:29671837 PMID:32238909 PMID:33176815 PMID:11115846 More...
RGD:11073221
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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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
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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
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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
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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
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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
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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 PMID:18954413 PMID:20466733 PMID:20603323 PMID:22408144 PMID:24510153 PMID:24860126 PMID:25741868 PMID:26350204 PMID:26663670 PMID:28492532 PMID:29671837 PMID:30517687 PMID:30744660 PMID:17584854 More...
RGD:12859083
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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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
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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
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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
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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
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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
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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
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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 PMID:33414379 PMID:34163010 More...
NCBI chr 1:196,536,815...196,542,808
Ensembl chr 1:196,536,834...196,542,699
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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 PMID:19252504 PMID:22366783 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25255767 PMID:25741868 PMID:26467025 PMID:26583190 PMID:27862284 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:29788902 PMID:30315159 PMID:31970217 PMID:32170967 PMID:33446253 PMID:35005077 More...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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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
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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 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:23649928 PMID:23756437 PMID:24033266 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27862284 PMID:27868373 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:35005077 PMID:35182466 PMID:35313204 PMID:35401677 More...
NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
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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
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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 PMID:17576681 PMID:18414213 PMID:19419963 PMID:19548389 PMID:22366783 PMID:24033266 PMID:25052316 PMID:25741868 PMID:26188271 PMID:26467025 PMID:27240540 PMID:27625340 PMID:28000701 PMID:28492532 PMID:29196752 PMID:29357087 PMID:29620237 PMID:29671837 PMID:29986705 PMID:30008475 PMID:30143558 PMID:30622556 PMID:31116477 PMID:32341388 PMID:33584783 PMID:33604570 PMID:34448047 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
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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
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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 PMID:25741868 PMID:28492532 PMID:35213059 PMID:27292316 PMID:11071144 PMID:12838518 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
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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
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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
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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
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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
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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 PMID:12601708 PMID:14627679 PMID:15103718 PMID:15833426 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:27671536 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31534214 PMID:31742715 PMID:31983221 PMID:32721234 PMID:33200426 PMID:34008892 PMID:35026164 PMID:35131284 PMID:35587316 PMID:35843586 More...
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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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
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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 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:26467025 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 PMID:31980526 PMID:32056211 PMID:32115343 PMID:32403337 PMID:32404165 PMID:33756069 PMID:34008892 PMID:34106991 PMID:34333724 PMID:35006422 More...
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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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
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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
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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 PMID:10738921 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26076356 PMID:26404900 PMID:26467025 PMID:27234031 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 PMID:30564623 PMID:31127727 PMID:31395954 PMID:31909476 PMID:32502767 PMID:33199158 PMID:34485198 More...
NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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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
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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
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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 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532 More...
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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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 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532 More...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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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
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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
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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 PMID:12707425 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18832576 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20675713 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22264518 PMID:22451200 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27711214 PMID:27848944 PMID:27884173 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29858056 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32342672 PMID:32429923 PMID:32746448 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34653404 PMID:36522254 More...
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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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 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19266496 PMID:19342235 PMID:20620061 PMID:20961758 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26809617 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:29590070 PMID:30060766 PMID:30975432 PMID:31983221 PMID:35131284 More...
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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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
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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 PMID:15037715 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16698797 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:20065251 PMID:20816175 PMID:22323514 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28157257 PMID:28492532 PMID:28556411 PMID:29101272 PMID:30060766 PMID:30426380 PMID:31311558 PMID:31319225 PMID:32528171 PMID:32860008 PMID:34930662 PMID:35046417 PMID:35606784 More...
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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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 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:31127727 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33200426 PMID:34413876 More...
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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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 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 PMID:30017359 PMID:31742715 PMID:34490615 More...
NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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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 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26663670 PMID:28492532 PMID:29273094 PMID:29302074 PMID:29791932 PMID:31130284 PMID:31428121 PMID:33200426 PMID:33290285 PMID:34906519 More...
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:27879205 PMID:28492532 PMID:29910097 PMID:30060766 PMID:32907597 More...
NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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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
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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
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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 PMID:25741868 PMID:28492532 More...
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22700954 PMID:22958903 PMID:24002165 PMID:24033266 PMID:24183756 PMID:25214167 PMID:25267602 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26495167 PMID:26886200 PMID:27447704 PMID:27457812 PMID:27854218 PMID:27894351 PMID:28492532 PMID:28688748 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:31127727 PMID:32140910 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33176815 PMID:33200426 PMID:34413876 PMID:35628876 PMID:36048137 More...
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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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 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:36819107 More...
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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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 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:36819107 More...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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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 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17336067 PMID:17351538 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20675713 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21970816 PMID:22264518 PMID:22451200 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30232282 PMID:30293248 PMID:30417025 PMID:30564623 PMID:30816495 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32429923 PMID:32746448 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34509255 PMID:34602496 PMID:34653404 PMID:35239206 PMID:36522254 More...
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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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
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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 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:27066570 PMID:28492532 PMID:31130284 PMID:32570172 PMID:35131284 PMID:35229910 More...
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 More...
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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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
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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
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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 PMID:12601708 PMID:14627679 PMID:15103718 PMID:15833426 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:27671536 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31534214 PMID:31742715 PMID:31983221 PMID:32721234 PMID:33200426 PMID:34008892 PMID:35026164 PMID:35131284 PMID:35587316 PMID:35843586 PMID:11445638 More...
RGD:11537476
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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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
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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
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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
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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 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29671837 More...
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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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 PMID:29706646 PMID:32097629 PMID:32097630 More...
NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516
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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
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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
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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 PMID:22995991 PMID:24033266 PMID:24376681 PMID:25741868 PMID:28492532 More...
NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
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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 PMID:18728072 PMID:18954413 PMID:20466733 PMID:20603323 PMID:21403111 PMID:22408144 PMID:22495306 PMID:22948023 PMID:23317684 PMID:24088041 PMID:24510153 PMID:24860126 PMID:25059107 PMID:25131622 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25666757 PMID:25741868 PMID:26130693 PMID:26350204 PMID:26467025 PMID:26633545 PMID:26663670 PMID:27431206 PMID:28407358 PMID:28492532 PMID:28677066 PMID:28973083 PMID:29158550 PMID:29671837 PMID:29706646 PMID:29758562 PMID:30087272 PMID:30517687 PMID:30744660 PMID:31474318 PMID:31628766 PMID:31696992 PMID:31833200 PMID:32581362 PMID:32989326 PMID:33077954 PMID:33604570 PMID:34246755 PMID:34906502 PMID:35229910 More...
NCBI chr 7:130,113,214...130,116,880
Ensembl chr 7:130,081,032...130,196,186
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Mir484
microRNA 484
ISO
ClinVar Annotator: match by term: Lissencephaly 4
ClinVar
NCBI chr10:887,684...887,760
Ensembl chr10:887,684...887,760
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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
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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 PMID:25332407 PMID:25741868 PMID:26206584 PMID:26467025 PMID:28492532 PMID:30637988 More...
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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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
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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 PMID:25741868 PMID:25925986 PMID:28492532 More...
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
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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
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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
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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
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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 PMID:33600046 More...
NCBI chr 5:135,623,734...135,949,097
Ensembl chr 5:135,623,742...135,945,905
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Dcx
doublecortin
ISO
ClinVar Annotator: match by term: Subcortical laminar heterotopia, X-linked
ClinVar
PMID:9489699 PMID:9489700 PMID:10441340 PMID:10749977 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25741868 PMID:28492532 PMID:35213059 More...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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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
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Dph1
diphthamide biosynthesis 1
ISS
OMIM:247200
MouseDO
NCBI chr10:60,028,081...60,039,764
Ensembl chr10:60,026,048...60,039,850
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:14593429 PMID:16199547 PMID:16311013 PMID:16958033 PMID:17124408 PMID:17366345 PMID:17431900 PMID:17576681 PMID:17955477 PMID:18414213 PMID:19319887 PMID:19435634 PMID:20697953 PMID:21549172 PMID:23287318 PMID:23334996 PMID:23757202 PMID:24267886 PMID:24385848 PMID:24467814 PMID:24828792 PMID:24848745 PMID:25620207 PMID:25621899 PMID:25640679 PMID:25648840 PMID:25741868 PMID:26046367 PMID:26302956 PMID:26459092 PMID:26467025 PMID:26901136 PMID:27000652 PMID:27884173 PMID:28419454 PMID:28454995 PMID:28492532 PMID:28677532 PMID:28783747 PMID:29056246 PMID:29358611 PMID:29671837 PMID:29706646 PMID:29969175 PMID:30091983 PMID:30190612 PMID:30564305 PMID:30891068 PMID:31031587 PMID:31069529 PMID:31144778 PMID:31209962 PMID:31875159 PMID:32086284 PMID:33004838 PMID:33453592 PMID:33994118 PMID:34426522 PMID:34489640 PMID:34569441 PMID:35668055 PMID:36703223 PMID:28123028 More...
RGD:13207512
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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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
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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
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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
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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
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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 PMID:18414213 PMID:25741868 PMID:28492532 PMID:29671837 More...
NCBI chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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Dcx
doublecortin
ISO IMP
DNA:deletions DNA:nonsense mutation: :p.R186C (971C>T) (human)
RGD
PMID:19050731 PMID:19098909 PMID:9618162
RGD:12904718 , RGD:12904725 , RGD:12904762
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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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
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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
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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
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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
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Calm3
calmodulin 3
ISO
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar
PMID:28492532
NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
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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
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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
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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
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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
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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
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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: Walker-Warburg congenital muscular dystrophy ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14523375 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16288869 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20675713 PMID:20961758 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:21296577 PMID:21816046 PMID:21886772 PMID:21970816 PMID:22264518 PMID:22451200 PMID:22981120 PMID:22983245 PMID:22995991 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26986070 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27363342 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30060766 PMID:30107846 PMID:30210031 PMID:30232282 PMID:30293248 PMID:30417025 PMID:30564623 PMID:30816495 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32351701 PMID:32419263 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:33051673 PMID:33077954 PMID:33200426 PMID:33250842 PMID:34008892 PMID:34440373 PMID:34509255 PMID:34602496 PMID:34653404 PMID:35239206 PMID:35741838 PMID:36522254 PMID:20236121 More...
RGD:11667969
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn
fukutin
ISO
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation, nonsense mutation, insertions: :multiple DNA:insertion:exon:c.1167insA (human)
ClinVar CTD RGD
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15833426 PMID:16199547 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:18834683 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23746544 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:27521547 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30975432 PMID:31534214 PMID:31742715 PMID:31756055 PMID:31862442 PMID:31983221 PMID:32721234 PMID:32746448 PMID:32969603 PMID:33048919 PMID:33200426 PMID:34008892 PMID:34120883 PMID:35026164 PMID:35131284 PMID:35175440 PMID:35587316 PMID:35843586 PMID:9690476 PMID:24824861 PMID:10545611 PMID:19266496 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
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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
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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
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Gng8
G protein subunit gamma 8
ISO
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar
PMID:28492532
NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371
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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
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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: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human) DNA:missense mutations, splice-site mutations, deletions: :multiple DNA:deletions, splice-site mutation:exon, intron:multiple
MouseDO ClinVar CTD RGD
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:23689641 PMID:15236414 PMID:11709191 PMID:22554691 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
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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
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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
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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 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28815891 PMID:29101272 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32860008 PMID:34930662 PMID:35606784 PMID:12369018 PMID:15637732 PMID:16575835 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
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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 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:15894594 More...
RGD:11532761
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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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
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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
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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 PMID:28492532 More...
NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
G
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
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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
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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 PMID:19266496 PMID:27065010 PMID:28492532 More...
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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 PMID:19266496 PMID:27065010 PMID:28492532 More...
NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025
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 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 More...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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 PMID:10749977 PMID:11071144 PMID:11175293 PMID:11331616 PMID:11468322 PMID:12552055 PMID:12838518 PMID:17111359 PMID:18414213 PMID:18685874 PMID:22857951 PMID:23365099 PMID:25326635 PMID:25741868 PMID:25817838 PMID:25868952 PMID:28492532 PMID:28953922 PMID:29671837 PMID:29706646 PMID:30979500 PMID:31069529 PMID:32238909 PMID:32570172 PMID:34145886 PMID:35213059 More...
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
G
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 PMID:14722918 PMID:17664401 PMID:18414213 PMID:18462864 PMID:19439424 PMID:19738637 PMID:20300201 PMID:22252899 PMID:22922607 PMID:23246292 PMID:23757202 PMID:24781210 PMID:25741868 PMID:26029707 PMID:28492532 PMID:32139178 PMID:12379852 More...
RGD:11565832
NCBI chr X:58,016,233...58,028,149
Ensembl chr X:58,016,233...58,028,142
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
18969
physical disorder
4965
congenital nervous system abnormality
1496
lissencephaly
116
Baraitser-Winter syndrome +
2
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY
1
Classical Lissencephalies and Subcortical Band Heterotopias +
6
Cobblestone Lissencephaly +
70
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
0
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 +
5
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
1
Path 2
disease
18969
Developmental Disease
14400
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
13417
genetic disease
13036
monogenic disease
10420
autosomal genetic disease
9578
autosomal dominant disease
6310
complex cortical dysplasia with other brain malformations
1595
Malformations of Cortical Development, Group II
185
lissencephaly
116
Baraitser-Winter syndrome +
2
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY
1
Classical Lissencephalies and Subcortical Band Heterotopias +
6
Cobblestone Lissencephaly +
70
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
0
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 +
5
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
1