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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:muscular dystrophy-dystroglycanopathy
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Accession:DOID:0050588 term browser browse the term
Definition:A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)
Synonyms:exact_synonym: CMD due to dystroglycanopathy
 primary_id: RDO:9004293
 xref: OMIM:PS613155;   ORDO:370953
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
muscular dystrophy-dystroglycanopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:2522420 PMID:22522420 PMID:25741868 PMID:28492532 NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:19820980 PMID:19835634 PMID:19900540 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:28492532 NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO DNA:mutations: cds:multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
RGD
ClinVar
PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 PMID:28492532 PMID:29437916 PMID:30257713 RGD:11530903 NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,344,590...49,350,383
Ensembl chr 3:50,589,193...50,594,968
JBrowse link
G C3H3orf62 chromosome 3 C3orf62 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,191,640...49,199,806
Ensembl chr 3:50,273,460...50,279,995
JBrowse link
G C3H3orf84 chromosome 3 C3orf84 homolog ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,100,962...49,115,215
Ensembl chr 3:50,180,907...50,195,215
JBrowse link
G CCDC71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,085,870...49,089,723 JBrowse link
G DAG1 dystroglycan 1 ISO OMIM NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,280,038...49,281,455
Ensembl chr 3:50,360,947...50,361,826
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,122,120...49,181,228
Ensembl chr 3:50,239,250...50,259,890
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,094,203...49,099,818
Ensembl chr 3:50,174,393...50,179,759
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,045,419...49,057,340
Ensembl chr 3:50,125,460...50,137,074
JBrowse link
G LOC100967331 ubiquitin carboxyl-terminal hydrolase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,199,328...49,263,861
Ensembl chr 3:50,279,642...50,343,903
JBrowse link
G NICN1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,350,753...49,357,161
Ensembl chr 3:50,595,232...50,601,612
JBrowse link
G RHOA ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,282,009...49,339,887 JBrowse link
G TCTA T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,340,010...49,344,288 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 OMIM NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359
JBrowse link
G BZW2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
JBrowse link
G LRRC72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320
JBrowse link
G SOSTDC1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:17,116,828...17,121,142
Ensembl chr 7:16,443,703...16,448,076
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:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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 a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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: HARD syndrome
ClinVar 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 chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G FKTN fukutin ISO 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 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:28492532 PMID:28785732 PMID:30060766 NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
G POMT2 protein O-mannosyltransferase 2 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 A, 1
ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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 OMIM NCBI chr12:25,101,865...25,131,886
Ensembl chr12:25,599,173...25,628,872
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 OMIM NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060
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:28492532 NCBI chr 1:210,881,078...211,008,686 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 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,303,987...42,333,743
Ensembl chr 8:39,743,768...39,774,031
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 chr 8:42,145,427...42,278,727
Ensembl chr 8:39,595,762...39,711,043
JBrowse link
G POMK protein O-mannose kinase ISO OMIM NCBI chr 8:42,340,500...42,371,426
Ensembl chr 8:39,790,758...39,811,239
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 chr 8:42,097,900...42,145,327
Ensembl chr 8:39,541,479...39,588,163
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 chr 8:42,084,934...42,092,044
Ensembl chr 8:39,528,366...39,535,207
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 OMIM NCBI chr11:61,711,028...61,713,356
Ensembl chr11:65,036,417...65,038,678
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 OMIM NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
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 OMIM NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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: 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:16427280 PMID:17030669 PMID:17559086 PMID:17906881 PMID:19299310 PMID:20215985 PMID:21361872 PMID:22323514 PMID:22522420 PMID:25390965 PMID:25741868 PMID:26467025 PMID:27493216 PMID:28492532 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
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 OMIM NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
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 OMIM NCBI chr22:14,077,463...14,929,250 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-) ISO OMIM NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
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 OMIM NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
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 chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852
JBrowse link
G FKRP fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
G FKTN fukutin ISO OMIM NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B ISO OMIM NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT1 protein O-mannosyltransferase 1 ISO OMIM NCBI chr 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 ISO OMIM NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 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 OMIM NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:19679478 PMID:21361872 PMID:22323514 PMID:22554691 PMID:23326386 PMID:23689641 PMID:24282183 PMID:24731844 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26938784 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin ISO OMIM NCBI chr 9:76,723,071...76,821,611
Ensembl chr 9:104,849,496...104,925,422
Ensembl chr 9:104,849,496...104,925,422
JBrowse link
Muscular Dystrophy-Dystroglycanopathy Type B15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO OMIM NCBI chr 1:130,487,584...130,488,330
Ensembl chr 1:134,096,219...134,096,587
JBrowse link
muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein ISO OMIM NCBI chr19:43,738,339...43,748,250
Ensembl chr19:52,273,546...52,276,341
JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO OMIM NCBI chr22:14,077,463...14,929,250 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    physical disorder 2378
      congenital muscular dystrophy 70
        muscular dystrophy-dystroglycanopathy 37
          Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 1
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 2
          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
          Muscular Dystrophy-Dystroglycanopathy Type B15 1
          autosomal recessive limb-girdle muscular dystrophy type 2P 13
          congenital muscular dystrophy-dystroglycanopathy type A + 24
          muscular dystrophy-dystroglycanopathy type B5 1
          muscular dystrophy-dystroglycanopathy type B6 1
Path 2
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  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10089
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 2
                          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
                          Muscular Dystrophy-Dystroglycanopathy Type B15 1
                          autosomal recessive limb-girdle muscular dystrophy type 2P 13
                          congenital muscular dystrophy-dystroglycanopathy type A + 24
                          muscular dystrophy-dystroglycanopathy type B5 1
                          muscular dystrophy-dystroglycanopathy type B6 1
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