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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:congenital muscular dystrophy
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Accession:DOID:0050557 term browser browse the term
Definition:A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)
Synonyms:exact_synonym: CMD
 narrow_synonym: congenital muscular dystrophy, alpha-dystroglycan related
 xref: GARD:9138;   ICD9CM:359.0;   ORDO:97242
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISS OMIM:254100 MouseDO NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 More... NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P OMIM
ClinVar		 PMID:9536098 PMID:14678799 PMID:15367484 PMID:17576681 PMID:21388311 More... NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895 		JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:15367484 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427 		JBrowse link
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 CTD
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital		 CTD
ClinVar		 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital		 CTD
ClinVar		 PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:15,185,353...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
OMIM
RGD		 PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 More... RGD:1600934 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
OMIM
RGD		 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 More... RGD:1600934 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 OMIM
ClinVar		 PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Collagen VI-related Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy OMIM
ClinVar
RGD		 PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9536098 More... RGD:13605609 NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Itga7 integrin subunit alpha 7 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency OMIM
ClinVar
RGD		 PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 More... RGD:13601979 NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450 		JBrowse link
G Mettl7b methyltransferase like 7B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:28492532 NCBI chr 7:1,388,876...1,391,526
Ensembl chr 7:1,388,879...1,391,526 		JBrowse link
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)		 OMIM
ClinVar
RGD		 PMID:2338570 PMID:9536098 PMID:10580070 PMID:10655060 PMID:10939567 More... RGD:12791283 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 More... NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability OMIM
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 NCBI chr10:60,474,262...60,495,813
Ensembl chr10:60,475,897...60,496,773 		JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers 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 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type OMIM
ClinVar		 PMID:25741868 PMID:27008887 PMID:28492532 PMID:31794073 NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19901254 PMID:23768512 More... NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Qualifiers 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 6:52,888,963...52,930,341
Ensembl chr 6:52,888,963...52,930,394 		JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 OMIM
ClinVar		 PMID:2328832 PMID:7604843 PMID:9492098 PMID:9536098 PMID:10738921 More... NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540 		JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 ClinVar PMID:23288328 PMID:28492532 NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16199547 PMID:16427280 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers 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 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Fkrp fukutin related protein ISS
ISO		 OMIM:236670
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 Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		 MouseDO
ClinVar		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISS
ISO		 OMIM:236670
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 Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		 MouseDO
ClinVar		 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 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 Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 OMIM
ClinVar		 PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15637732 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISS
ISO		 OMIM:236670
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		 MouseDO
ClinVar		 PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 OMIM
ClinVar		 PMID:16199547 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 More... NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23453667 PMID:24084573 More... NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469 		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 chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers 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 chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138 		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 chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338 		JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		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 chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083 		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 chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers 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:23877401 PMID:25558065 PMID:25741868 More... NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers 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 OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers 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 A5 OMIM
ClinVar		 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:12707439 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 ClinVar PMID:25741868 NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 OMIM
ClinVar		 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 More... NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers 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 		JBrowse link
G Ackr2 atypical chemokine receptor 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,559,563...121,573,633
Ensembl chr 8:121,561,211...121,573,582 		JBrowse link
G Ano10 anoctamin 10 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670 		JBrowse link
G Ccdc13 coiled-coil domain containing 13 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,455,202...121,507,487
Ensembl chr 8:121,457,697...121,502,337 		JBrowse link
G Cck cholecystokinin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
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 		JBrowse link
G Gask1a golgi associated kinase 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,610,779...121,643,742
Ensembl chr 8:121,610,787...121,642,942 		JBrowse link
G Hhatl hedgehog acyltransferase-like ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,447,001...121,454,070
Ensembl chr 8:121,447,002...121,454,001 		JBrowse link
G Higd1a HIG1 hypoxia inducible domain family, member 1A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,514,152...121,523,382
Ensembl chr 8:121,514,156...121,523,443 		JBrowse link
G Klhl40 kelch-like family member 40 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,441,275...121,446,806
Ensembl chr 8:121,441,287...121,446,800 		JBrowse link
G Krbox1 KRAB box domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,597,254...121,604,048
Ensembl chr 8:121,597,319...121,604,027 		JBrowse link
G Lyzl4 lysozyme-like 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,248,129...121,255,372
Ensembl chr 8:121,248,168...121,255,353 		JBrowse link
G Nktr natural killer cell triggering receptor ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,380,010...121,420,495
Ensembl chr 8:121,382,436...121,418,314 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM
ClinVar		 PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 More... NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G Sec22c SEC22 homolog C, vesicle trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,345,839...121,371,509
Ensembl chr 8:121,350,107...121,370,925 		JBrowse link
G Snrk SNF related kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,779,704...121,833,949
Ensembl chr 8:121,793,302...121,832,323 		JBrowse link
G Ss18l2 SS18 like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,375,249...121,377,877
Ensembl chr 8:121,375,308...121,377,877 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367 		JBrowse link
G Ulk4 unc-51 like kinase 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924 		JBrowse link
G Vipr1 vasoactive intestinal peptide receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585 		JBrowse link
G Zbtb47 zinc finger and BTB domain containing 47 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar PMID:28492532 NCBI chr 8:121,420,758...121,434,365
Ensembl chr 8:121,423,696...121,433,225 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 OMIM
ClinVar		 PMID:24033266 PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 More... NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
dystonia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: Dystonia 27 OMIM
ClinVar		 PMID:15689448 PMID:18378883 PMID:18414213 PMID:25741868 PMID:26004199 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers 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 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related OMIM
ClinVar
RGD		 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 More... RGD:11537476 NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
megaconial type congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adm2 adrenomedullin 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy OMIM
ClinVar		 PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Klhdc7b kelch domain containing 7B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737 		JBrowse link
G Lmf2 lipase maturation factor 2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823 		JBrowse link
G Miox myo-inositol oxygenase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Odf3b outer dense fiber of sperm tails 3B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902 		JBrowse link
G Syce3 synaptonemal complex central element protein 3 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
muscular dystrophy-dystroglycanopathy term browser
Symbol Object Name Qualifiers 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:22522420 PMID:25741868 PMID:28492532 NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028 		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 More... NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO
ISS		 DNA:mutations: cds:multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy		 MouseDO
ClinVar
RGD		 PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 More... RGD:11530903 NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 OMIM
ClinVar		 PMID:11053679 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 More... NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
muscular dystrophy-dystroglycanopathy type B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt1 protein-O-mannosyltransferase 1 ISS MouseDO NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
muscular dystrophy-dystroglycanopathy type B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Fkrp fukutin related protein ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISS OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 MouseDO NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
muscular dystrophy-dystroglycanopathy type B14 term browser
Symbol Object Name Qualifiers 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 IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 OMIM
ClinVar		 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 More... NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
muscular dystrophy-dystroglycanopathy type B15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 OMIM
ClinVar		 PMID:31469168 NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668 		JBrowse link
muscular dystrophy-dystroglycanopathy type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED OMIM
ClinVar		 PMID:16701995 PMID:17634419 PMID:17878207 PMID:17878297 PMID:18513969 More... NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
muscular dystrophy-dystroglycanopathy type B3 term browser
Symbol Object Name Qualifiers 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: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
muscular dystrophy-dystroglycanopathy type B4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED OMIM
ClinVar		 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5
DNA:missense mutations: :p.A455D, p.V405L (human)		 OMIM
ClinVar
RGD		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,848,787...17,905,993
Ensembl chr 7:17,861,007...17,905,919 		JBrowse link
G Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794 		JBrowse link
G Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar
OMIM
RGD		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17576681 More... RGD:1358756 NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,907,786...17,927,134
Ensembl chr 7:17,907,705...17,927,132 		JBrowse link
G Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547 		JBrowse link
G Slc5a4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr20:12,475,644...12,518,738
Ensembl chr20:12,475,644...12,518,738 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:77,696,332...77,705,715
Ensembl chr14:77,696,333...77,705,741 		JBrowse link
muscular dystrophy-dystroglycanopathy type C12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency OMIM
ClinVar		 PMID:24556084 PMID:24925318 PMID:25741868 PMID:28492532 PMID:29910097 NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
muscular dystrophy-dystroglycanopathy type C8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 OMIM
ClinVar		 PMID:25741868 PMID:27066570 PMID:28492532 NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:27854218 NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy ClinVar PMID:21131290 PMID:21670436 PMID:28492532 NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Selenon selenoprotein N ISO DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy		 ClinVar
OMIM
RGD		 PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 PMID:12192640 More... RGD:1599352 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
Ullrich congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1		 CTD
ClinVar		 PMID:16199547 PMID:24334604 PMID:25741868 PMID:28492532 PMID:28973083 NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:9724608 PMID:15689448 PMID:16130093 More... NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11992252 PMID:15563506 PMID:15689448 More... NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Ullrich Congenital Muscular Dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar		 PMID:8601036 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24334604 More... NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
G Celsr1 cadherin, EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:11667969 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
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 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 		JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 NCBI chr 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
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 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO 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
RGD		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 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 		JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:26060116 RGD:11532770 NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757 		JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
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
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:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
ClinVar Annotator: match by term: Pagon syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
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 		JBrowse link
G Tal2 TAL bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569 		JBrowse link
G Tmem38b transmembrane protein 38B ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      congenital muscular dystrophy 116
        Collagen VI-related Myopathy + 8
        Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
        Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
        Congenital Muscular Dystrophy plus Mental Retardation 0
        Congenital Muscular Dystrophy with Cerebellar Atrophy 0
        Congenital Muscular Dystrophy with Rapid Progression 0
        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
        Walker-Warburg syndrome + 58
        arthrogryposis due to muscular dystrophy 1
        congenital merosin-deficient muscular dystrophy 1A + 2
        congenital muscular dystrophy 1B 0
        congenital muscular dystrophy due to LMNA mutation 1
        congenital muscular dystrophy due to integrin alpha-7 deficiency 3
        congenital muscular dystrophy merosin-positive 0
        congenital muscular dystrophy with cataracts and intellectual disability 1
        megaconial type congenital muscular dystrophy 11
        muscular dystrophy-dystroglycanopathy + 69
        rigid spine muscular dystrophy 1 5
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        peripheral nervous system disease 2997
          neuropathy 2785
            neuromuscular disease 2204
              muscular disease 1434
                muscle tissue disease 951
                  myopathy 782
                    muscular dystrophy 422
                      congenital muscular dystrophy 116
                        Collagen VI-related Myopathy + 8
                        Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 0
                        Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
                        Congenital Muscular Dystrophy plus Mental Retardation 0
                        Congenital Muscular Dystrophy with Cerebellar Atrophy 0
                        Congenital Muscular Dystrophy with Rapid Progression 0
                        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
                        Walker-Warburg syndrome + 58
                        arthrogryposis due to muscular dystrophy 1
                        congenital merosin-deficient muscular dystrophy 1A + 2
                        congenital muscular dystrophy 1B 0
                        congenital muscular dystrophy due to LMNA mutation 1
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 3
                        congenital muscular dystrophy merosin-positive 0
                        congenital muscular dystrophy with cataracts and intellectual disability 1
                        megaconial type congenital muscular dystrophy 11
                        muscular dystrophy-dystroglycanopathy + 69
                        rigid spine muscular dystrophy 1 5
paths to the root