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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:Walker-Warburg syndrome
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Accession:DOID:0050560 term browser browse the term
Definition:A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)
Synonyms:exact_synonym: Chemke syndrome;   MEB (Muscle-Eye-Brain) Syndrome;   Muscle Eye Brain Disease;   Muscle-Eye-Brain Diseases;   Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation;   Pagon syndrome;   Pagon syndromes;   Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related;   Warburg syndrome;   alpha dystroglycanopathies
 narrow_synonym: WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY
 primary_id: MESH:D058494
 xref: GARD:2599

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Walker-Warburg syndrome term browser
Symbol Object Name 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 chrNW_004955419:21,553,863...21,681,626
Ensembl chrNW_004955419:21,553,835...21,681,619 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709 		JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:672,441...680,924
Ensembl chrNW_004955574:672,300...680,924 		JBrowse link
G Celsr1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chrNW_004955413:30,455,194...30,561,124
Ensembl chrNW_004955413:30,457,030...30,561,124 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO OMIM:236670 | OMIM:253280 MouseDO NCBI chrNW_004955404:2,196,193...2,327,324
Ensembl chrNW_004955404:2,260,029...2,326,074 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chrNW_004955410:19,359,495...19,614,283
Ensembl chrNW_004955410:19,359,868...19,614,344 		JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:18923033 PMID:24824861 RGD:11537405 RGD:11537406 NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome		 ClinVar PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G 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 chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		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 chrNW_004955419:21,003,234...21,076,163
Ensembl chrNW_004955419:21,003,234...21,068,643 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900 		JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:697,254...699,282
Ensembl chrNW_004955574:697,254...699,282 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chrNW_004955420:27,884,262...27,899,293
Ensembl chrNW_004955420:27,884,303...27,899,293 		JBrowse link
G Pomk protein O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome		 ClinVar PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933 		JBrowse link
G Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Pagon syndrome ClinVar PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:723,933...750,794
Ensembl chrNW_004955574:723,933...750,793 		JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:686,156...690,126
Ensembl chrNW_004955574:687,583...689,750 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:23217329 PMID:24033266 PMID:25741868 PMID:27733679 PMID:28492532 NCBI chrNW_004955458:10,649,364...10,674,913
Ensembl chrNW_004955458:10,648,471...10,676,813 		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 chrNW_004955419:21,092,583...21,277,294
Ensembl chrNW_004955419:21,092,380...21,231,070 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chrNW_004955574:752,848...771,664
Ensembl chrNW_004955574:752,848...771,666 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004955419:20,899,292...20,907,288
Ensembl chrNW_004955419:20,897,718...20,906,421 		JBrowse link
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chrNW_004955419:20,811,931...20,844,420
Ensembl chrNW_004955419:20,812,702...20,878,599 		JBrowse link
G 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 chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name 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 chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		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 chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741914 NCBI chrNW_004955467:6,684,104...6,707,597
Ensembl chrNW_004955467:6,685,753...6,707,491 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name 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 chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name 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 chrNW_004955410:19,778,736...19,812,731
Ensembl chrNW_004955410:19,778,736...19,813,150 		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 chrNW_004955410:19,833,008...19,874,647
Ensembl chrNW_004955410:19,833,008...19,878,691 		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 chrNW_004955410:19,359,495...19,614,283
Ensembl chrNW_004955410:19,359,868...19,614,344 		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 chrNW_004955410:19,714,223...19,774,630 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 chrNW_004955410:19,657,805...19,662,121
Ensembl chrNW_004955410:19,657,029...19,662,131 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name 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 chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		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 chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name 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 chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		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 chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		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 chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17597323 More... NCBI chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		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 chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 OMIM
ClinVar		 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 PMID:14678799 More... NCBI chrNW_004955513:1,189,169...1,203,933
Ensembl chrNW_004955513:1,189,169...1,203,933 		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:15894594 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 More... NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chrNW_004955458:10,649,364...10,674,913
Ensembl chrNW_004955458:10,648,471...10,676,813 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name 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 chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 ClinVar PMID:18496845 PMID:19319978 PMID:25326637 PMID:25741868 PMID:28492532 NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		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:28492532 NCBI chrNW_004955492:4,502,705...4,573,126
Ensembl chrNW_004955492:4,502,897...4,558,697 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name 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 chrNW_004955457:13,260,825...13,294,025
Ensembl chrNW_004955457:13,260,545...13,294,025 		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 chrNW_004955457:13,351,963...13,386,521
Ensembl chrNW_004955457:13,349,213...13,387,251 		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 chrNW_004955457:13,149,013...13,249,524
Ensembl chrNW_004955457:13,149,013...13,249,321 		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 chrNW_004955457:13,299,176...13,318,535
Ensembl chrNW_004955457:13,309,564...13,317,825 		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 chrNW_004955457:13,093,914...13,148,800
Ensembl chrNW_004955457:13,096,483...13,147,637 		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 chrNW_004955457:13,077,015...13,088,406
Ensembl chrNW_004955457:13,072,697...13,088,406 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name 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 chrNW_004955422:18,979,545...18,981,889
Ensembl chrNW_004955422:18,979,545...18,981,889 		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 chrNW_004955422:18,825,756...18,843,820
Ensembl chrNW_004955422:18,825,756...18,844,036 		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 chrNW_004955422:18,981,984...18,989,730
Ensembl chrNW_004955422:18,982,082...18,989,730 		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 chrNW_004955422:18,844,391...18,865,050
Ensembl chrNW_004955422:18,844,138...18,865,050 		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 chrNW_004955422:18,897,202...18,901,896
Ensembl chrNW_004955422:18,897,027...18,903,975 		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 chrNW_004955422:18,907,328...18,913,088
Ensembl chrNW_004955422:18,907,322...18,913,428 		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 chrNW_004955422:18,868,696...18,877,826
Ensembl chrNW_004955422:18,868,696...18,877,438 		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 chrNW_004955422:18,989,814...18,996,570
Ensembl chrNW_004955422:18,990,698...18,997,838 		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 chrNW_004955422:18,960,862...18,970,312
Ensembl chrNW_004955422:18,960,862...18,972,676 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name 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 chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name 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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name 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 A5 OMIM
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... NCBI chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chrNW_004955574:752,848...771,664
Ensembl chrNW_004955574:752,848...771,666 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name 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 chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name 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 chrNW_004955420:27,484,500...27,508,360
Ensembl chrNW_004955420:27,482,709...27,508,360 		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 chrNW_004955420:27,990,786...28,020,203
Ensembl chrNW_004955420:27,992,341...28,011,618 		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 chrNW_004955420:27,572,561...27,682,099
Ensembl chrNW_004955420:27,572,561...27,696,269 		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 chrNW_004955420:28,061,460...28,107,509
Ensembl chrNW_004955420:28,061,449...28,107,309 		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 chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458 		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 chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		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 chrNW_004955420:27,900,342...27,931,079
Ensembl chrNW_004955420:27,901,885...27,952,998 		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 chrNW_004955420:28,110,462...28,117,454
Ensembl chrNW_004955420:28,110,860...28,117,454 		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 chrNW_004955420:28,040,320...28,050,723
Ensembl chrNW_004955420:28,045,410...28,049,758 		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 chrNW_004955420:28,117,553...28,122,391
Ensembl chrNW_004955420:28,117,898...28,122,270 		JBrowse link
G Krbox1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,971,780...27,976,123 JBrowse link
G LOC102019604 7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,988,067...27,990,637 JBrowse link
G Lyzl4 lysozyme like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,333,984...28,344,180
Ensembl chrNW_004955420:28,336,162...28,344,635 		JBrowse link
G Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,148,040...28,193,734
Ensembl chrNW_004955420:28,150,386...28,193,735 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM
ClinVar		 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 More... NCBI chrNW_004955420:27,884,262...27,899,293
Ensembl chrNW_004955420:27,884,303...27,899,293 		JBrowse link
G Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,210,912...28,227,015
Ensembl chrNW_004955420:28,210,790...28,230,444 		JBrowse link
G Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:27,710,536...27,754,682
Ensembl chrNW_004955420:27,712,967...27,754,720 		JBrowse link
G Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,203,226...28,205,284
Ensembl chrNW_004955420:28,203,226...28,205,284 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,457,179...28,547,585
Ensembl chrNW_004955420:28,454,812...28,549,489 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,633,011...29,031,161
Ensembl chrNW_004955420:28,633,726...29,028,025 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,234,590...28,253,146
Ensembl chrNW_004955420:28,234,153...28,253,168 		JBrowse link
G Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chrNW_004955420:28,134,811...28,141,686
Ensembl chrNW_004955420:28,137,041...28,141,686 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 OMIM
ClinVar		 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 More... NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name 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 chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		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 chrNW_004955574:779,672...789,621
Ensembl chrNW_004955574:786,758...788,348 		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 chrNW_004955419:20,933,662...20,994,793
Ensembl chrNW_004955419:20,933,662...20,994,793 		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:25741914 NCBI chrNW_004955467:6,684,104...6,707,597
Ensembl chrNW_004955467:6,685,753...6,707,491 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Walker-Warburg syndrome 69
        COD (Cerebroocular Dysgenesis) 0
        Congenital Muscular Dystrophy with Central Nervous System Involvement 3
        congenital muscular dystrophy-dystroglycanopathy type A + 57
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9437
            autosomal genetic disease 8755
              autosomal dominant disease 5744
                complex cortical dysplasia with other brain malformations 1525
                  Malformations of Cortical Development, Group II 174
                    lissencephaly 108
                      Cobblestone Lissencephaly 69
                        Walker-Warburg syndrome 69
                          COD (Cerebroocular Dysgenesis) 0
                          Congenital Muscular Dystrophy with Central Nervous System Involvement 3
                          congenital muscular dystrophy-dystroglycanopathy type A + 57
paths to the root