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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:Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.
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
For additional species annotation, visit the Alliance of Genome Resources.


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Walker-Warburg syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AQP4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:235,440,654...235,504,481
Ensembl chr 1:235,447,190...235,504,452
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G CALM3 calmodulin 3 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,647,551...46,661,182
Ensembl chr19:46,647,551...46,661,182
JBrowse link
G DAG1 dystroglycan 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18923033, PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FKRP fukutin related protein IAGP
EXP
DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19299310 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:22983245 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27363342 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740, PMID:20236121 RGD:11667969 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP
EXP
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)
ClinVar
CTD
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:14627679 PMID:15833426 PMID:16199547 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:30060766, PMID:9690476, PMID:24824861, PMID:10545611, PMID:19266496 RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FSD1L fibronectin type III and SPRY domain containing 1 like IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:105,442,183...105,552,433
Ensembl chr 9:105,447,796...105,552,433
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
JBrowse link
G GNG8 G protein subunit gamma 8 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,633,953...46,639,326
Ensembl chr19:46,634,076...46,634,685
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP
EXP
ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP
EXP
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
ClinVar
CTD
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:30937090 PMID:30961548, PMID:23689641, PMID:15236414, PMID:11709191, PMID:22554691 RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:26060116 RGD:11532770 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
JBrowse link
G POMK protein O-mannose kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP
EXP
DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
ClinVar
CTD
PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:17559086 PMID:17878207 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28097321 PMID:28116189 PMID:28492532 PMID:30426380 PMID:32860008, PMID:12369018, PMID:16575835, PMID:15637732 RGD:731235, RGD:11532686, RGD:11073321 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP
EXP
DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15894594 RGD:11532761 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G PRKD2 protein kinase D2 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127
JBrowse link
G PTGIR prostaglandin I2 receptor IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,610,040...46,625,097
Ensembl chr19:46,620,468...46,625,089
JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD
ClinVar
PMID:23217329 PMID:24033266 PMID:27733679 PMID:28492532 NCBI chr12:63,779,831...63,809,562
Ensembl chr12:63,779,842...63,809,562
JBrowse link
G STRN4 striatin 4 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,719,509...46,746,475
Ensembl chr19:46,719,511...46,746,994
JBrowse link
G TSPAN1 tetraspanin 1 IAGP 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:30937090 PMID:30961548 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
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 FKTN fukutin IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28166811 PMID:28492532 PMID:30060766 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar
OMIM
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:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973
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 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,599,779...16,645,816
Ensembl chr 7:16,599,779...16,645,817
JBrowse link
G BZW2 basic leucine zipper and W2 domains 2 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,646,181...16,706,522
Ensembl chr 7:16,646,131...16,706,523
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar
OMIM
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:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CRPPA-AS1 CRPPA antisense RNA 1 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar PMID:9492098 PMID:16199547 PMID:22522420 PMID:22522421 PMID:23288328 PMID:23390185 PMID:24120487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29382405 NCBI chr 7:16,210,486...16,270,604
Ensembl chr 7:16,210,484...16,270,604
JBrowse link
G LRRC72 leucine rich repeat containing 72 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,526,825...16,581,568
Ensembl chr 7:16,526,825...16,581,568
JBrowse link
G SOSTDC1 sclerostin domain containing 1 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,461,481...16,465,738
Ensembl chr 7:16,461,481...16,530,580
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FKRP fukutin related protein IAGP
IEA
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP
IEA
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28166811 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IEA OMIM:236670 MouseDO NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar
OMIM
PMID:9536098 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:17559086 PMID:17576681 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:26467025 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28556411 PMID:30426380 PMID:31319225 PMID:32860008 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP
IEA
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 NCBI chr12:63,779,831...63,809,562
Ensembl chr12:63,779,842...63,809,562
JBrowse link
G RXYLT1-AS1 RXYLT1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar PMID:23217329 PMID:25741868 PMID:28492532 NCBI chr12:63,808,845...63,822,156
Ensembl chr12:63,804,739...63,822,156
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar
OMIM
PMID:16199547 PMID:23453667 PMID:25326635 PMID:25640679 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr 1:235,440,654...235,504,481
Ensembl chr 1:235,447,190...235,504,452
JBrowse link
G BMPR1A bone morphogenetic protein receptor type 1A IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr10:86,755,786...86,927,969
Ensembl chr10:86,756,601...86,932,825
JBrowse link
G TBCE tubulin folding cofactor E IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, alpha IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788
JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535
JBrowse link
G MIR4469 microRNA 4469 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,197...42,896,275
Ensembl chr 8:42,896,197...42,896,275
JBrowse link
G POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,849,637...42,897,294
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 ClinVar
OMIM
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
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 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID: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:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
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-) IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:20816175 PMID:21361872 PMID:21447391 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:28492532 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191 PMID:12788071 PMID:12849864 PMID:15236414 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:20816175 PMID:21361872 PMID:21447391 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:28492532 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar
OMIM
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:17952692 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G STRN4 striatin 4 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 ClinVar PMID:25741868 NCBI chr19:46,719,509...46,746,475
Ensembl chr19:46,719,511...46,746,994
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 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar
OMIM
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
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 IEP protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IEP
IAGP
ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
ClinVar
OMIM
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    syndrome 8995
      Walker-Warburg syndrome 38
        COD (Cerebroocular Dysgenesis) 0
        Congenital Muscular Dystrophy with Central Nervous System Involvement 1
        congenital muscular dystrophy-dystroglycanopathy type A + 29
Path 2
Term Annotations click to browse term
  disease 20160
    disease of anatomical entity 18757
      nervous system disease 14794
        peripheral nervous system disease 2758
          neuropathy 2553
            neuromuscular disease 2034
              muscular disease 1360
                muscle tissue disease 907
                  atrophic muscular disease 361
                    muscular dystrophy 359
                      congenital muscular dystrophy 80
                        Walker-Warburg syndrome 38
                          COD (Cerebroocular Dysgenesis) 0
                          Congenital Muscular Dystrophy with Central Nervous System Involvement 1
                          congenital muscular dystrophy-dystroglycanopathy type A + 29
paths to the root