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: Cobblestone Lissencephaly
Accession: DOID:9003328
browse the term
Definition: The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.
Synonyms: exact_synonym: Cobblestone Complex; Cobblestone Dysplasia; Cobblestone Dysplasias; Cobblestone Lissencephalies; Lissencephaly Type 2
primary_id: MESH:D054222
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 chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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 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:25525159 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:29101272 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:35743126 PMID:35843586 PMID:37834164 More...
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
G
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
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 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26908613 PMID:26990548 PMID:27391550 PMID:27604308 PMID:28492532 PMID:30961548 PMID:31589614 PMID:31980526 PMID:33144682 More...
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26908613 PMID:26990548 PMID:27391550 PMID:27604308 PMID:28492532 PMID:30961548 PMID:31589614 PMID:31980526 PMID:33144682 More...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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 chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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 chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
PMID:25741868
NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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 PMID:12707425 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833426 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16717227 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17994539 PMID:18036232 PMID:18414213 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18832576 PMID:19299310 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20675713 PMID:20961759 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22451200 PMID:23420653 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25135358 PMID:25741868 PMID:25802880 PMID:25976249 PMID:26467025 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27711214 PMID:27848944 PMID:27884173 PMID:28482373 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29858056 PMID:30417025 PMID:30564623 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32342672 PMID:32403337 PMID:32429923 PMID:32746448 PMID:33077954 PMID:33200426 PMID:34653404 PMID:34935411 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 More...
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
G
Fktn
fukutin
ISO
ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar
PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 PMID:19015585 PMID:19342235 PMID:20620061 PMID:20961758 PMID:23582336 PMID:24033266 PMID:24144914 PMID:25741868 PMID:26467025 PMID:26809617 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 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
G
Large1
LARGE xylosyl- and glucuronyltransferase 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930
G
Pomt1
protein-O-mannosyltransferase 1
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
OMIM ClinVar
PMID:1236901 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:22499106 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:30564623 PMID:31311558 PMID:31319225 PMID:31862442 PMID:32528171 PMID:32860008 PMID:34925456 PMID:34930662 PMID:35046417 PMID:35606784 More...
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581
G
Pomt2
protein-O-mannosyltransferase 2
ISO
ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:29382405 PMID:30091983 PMID:32494558 PMID:34413876 More...
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar
PMID:25741868
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
G
Rxylt1
ribitol xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 PMID:30017359 PMID:31742715 PMID:34490615 PMID:36344539 More...
NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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 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 PMID:35338537 PMID:38649797 More...
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
G
Tbce
tubulin folding cofactor E
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar
PMID:23453667 PMID:25741868 PMID:26663670 PMID:28492532 PMID:33290285
NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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 chr16:72,767,864...72,786,193
Ensembl chr16:66,065,132...66,083,460
G
Hgsnat
heparan-alpha-glucosaminide N-acetyltransferase
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
G
Hook3
hook microtubule-tethering protein 3
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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 PMID:25741868 PMID:27879205 PMID:28492532 PMID:29910097 PMID:30060766 PMID:32907597 More...
NCBI chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388
G
Rnf170
ring finger protein 170
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
G
Thap1
THAP domain containing 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar
PMID:28492532
NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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 PMID:25741868 PMID:28492532 More...
NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
G
Bbs1
Bardet-Biedl syndrome 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
G
Brms1
BRMS1, transcriptional repressor and anoikis regulator
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
G
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
G
Mrpl11
mitochondrial ribosomal protein L11
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
G
Npas4
neuronal PAS domain protein 4
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:202,281,958...202,286,724
G
Peli3
pellino E3 ubiquitin protein ligase family member 3
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
G
Rin1
Ras and Rab interactor 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:202,355,890...202,362,729
G
Slc29a2
solute carrier family 29 member 2
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
ClinVar
PMID:22219654 PMID:28492532
NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
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 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 PMID:37853563 More...
NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286
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 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:29759639 PMID:30060766 PMID:30091983 PMID:31127727 PMID:31980526 PMID:32140910 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33176815 PMID:33200426 PMID:34413876 PMID:35628876 PMID:36048137 PMID:36797079 More...
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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
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:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30961548 PMID:31066047 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:36819107 PMID:36964972 More...
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
G
Tspan1
tetraspanin 1
ISO
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 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:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30961548 PMID:31066047 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:36819107 PMID:36964972 More...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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 A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
OMIM ClinVar
PMID:6368217 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 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:15883334 PMID:15886712 PMID:16143867 PMID:16288869 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16717227 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: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:28482373 PMID:28492532 PMID:28569743 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30107846 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:32403337 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:32914449 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34379075 PMID:34509255 PMID:34602496 PMID:34653404 PMID:34935411 PMID:35239206 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 More...
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
G
Strn4
striatin 4
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
ClinVar
PMID:25741868
NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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:12966029 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:22426012 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29970176 PMID:38229655 More...
NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930
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 chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394
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 chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
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 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: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
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 chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
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 chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
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 chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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 chr 8:121,559,563...121,573,633
Ensembl chr 8:121,561,211...121,573,582
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 chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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 chr 8:121,455,202...121,507,487
Ensembl chr 8:121,457,697...121,502,337
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 chr 8:130,031,012...130,037,702
Ensembl chr 8:121,153,500...121,160,084
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 chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Cyp8b1
cytochrome P450 family 8 subfamily B member 1
ISO
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar
PMID:28492532
NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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 chr 8:121,610,779...121,643,742
Ensembl chr 8:121,610,787...121,642,942
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 chr 8:121,447,001...121,454,070
Ensembl chr 8:121,447,002...121,454,001
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 chr 8:121,514,152...121,523,382
Ensembl chr 8:121,514,156...121,523,443
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 chr 8:121,441,285...121,446,801
Ensembl chr 8:121,441,287...121,446,800
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 chr 8:121,597,254...121,604,048
Ensembl chr 8:121,597,319...121,604,027
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 chr 8:130,125,641...130,132,872
Ensembl chr 8:121,248,168...121,255,353
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 chr 8:121,380,010...121,420,495
Ensembl chr 8:121,382,436...121,418,314
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 PMID:27066570 PMID:28492532 PMID:31130284 PMID:32570172 PMID:35131284 PMID:35229910 PMID:35533453 PMID:37432431 More...
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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 chr 8:121,345,839...121,371,509
Ensembl chr 8:121,350,107...121,370,925
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 chr 8:121,779,704...121,833,949
Ensembl chr 8:121,793,302...121,832,323
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 chr 8:121,375,263...121,377,877
Ensembl chr 8:121,375,308...121,377,877
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 chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
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 chr 8:129,548,431...129,843,555
Ensembl chr 8:120,670,866...120,966,924
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 chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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 chr 8:121,420,758...121,434,365
Ensembl chr 8:121,423,696...121,433,225
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
Dag1
dystroglycan 1
ISO
ClinVar Annotator: match by term: DAG1-related condition | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
OMIM ClinVar
PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 PMID:29970176 PMID:30838779 More...
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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 chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
G
Fkrp
fukutin related protein
ISO
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar
PMID:25741868
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
G
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:25525159 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:29101272 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:35743126 PMID:35843586 PMID:37834164 PMID:11445638 More...
RGD:11537476
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
G
Myh1
myosin heavy chain 1
ISO
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar
PMID:25741868
NCBI chr10:51,885,913...51,909,699
Ensembl chr10:51,885,913...51,946,295
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 chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
G
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
G
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
G
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
G
Calm3
calmodulin 3
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
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 chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
G
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
G
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
G
Dact3
dishevelled-binding antagonist of beta-catenin 3
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630
G
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
G
Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Chemke syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
G
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: Walker-Warburg syndrome 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
ClinVar CTD RGD
PMID:1464708 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:16717227 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:28482373 PMID:28492532 PMID:28569743 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:32403337 PMID:32419263 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:32914449 PMID:33051673 PMID:33077954 PMID:33146414 PMID:33200426 PMID:33250842 PMID:34008892 PMID:34379075 PMID:34440373 PMID:34509255 PMID:34602496 PMID:34653404 PMID:34935411 PMID:35239206 PMID:35741838 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 PMID:38374194 PMID:20236121 More...
RGD:11667969
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
G
Fktn
fukutin
ISO
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: 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:29101272 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:35352813 PMID:35587316 PMID:35743126 PMID:35843586 PMID:37834164 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
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 chr 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928
G
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
G
Gng8
G protein subunit gamma 8
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar
PMID:28492532
NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371
G
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 chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930
G
Pomgnt1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
ISO ISS
DNA:missense mutations, nonsense mutation: :multiple ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human) DNA:missense mutations, splice-site mutations, deletions: :multiple DNA:deletions, splice-site mutation:exon, intron:multiple
ClinVar MouseDO 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:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:34426522 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
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 chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
G
Pomk
protein-O-mannose kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388
G
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:1236901 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:30060766 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32528171 PMID:32860008 PMID:34930662 PMID:35046417 PMID:35606784 PMID:12369018 PMID:15637732 PMID:16575835 More...
RGD:731235 , RGD:11073321 , RGD:11532686
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581
G
Pomt2
protein-O-mannosyltransferase 2
ISO
DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human) ClinVar Annotator: match by term: Pagon syndrome ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg 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
G
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
G
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
G
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
G
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
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 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:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:34426522 More...
NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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