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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 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16650086 PMID:17318636 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25741868 PMID:26467025 PMID:27142102 PMID:28492532 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949
Ensembl chr15:42,359,498...42,412,949
JBrowse link
G COL6A3 collagen type VI alpha 3 chain ISS OMIM:254100 MouseDO NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,207
Ensembl chr 2:237,324,003...237,414,207
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29260090 PMID:29382405 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CRPPA-AS1 CRPPA antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:16,210,486...16,270,604
Ensembl chr 7:16,210,484...16,270,604
JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 7:30,010,587...30,026,702
Ensembl chr 7:30,010,587...30,026,702
Ensembl chr 7:30,010,587...30,026,702
JBrowse link
G FKBP14-AS1 FKBP14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:28492532 PMID:28617417 PMID:31132235 NCBI chr 7:29,988,600...30,026,079 JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G NEB nebulin IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:151,485,334...151,734,476
Ensembl chr 2:151,485,336...151,734,487
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202 PMID:24033266 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G RIF1 replication timing regulatory factor 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:151,409,902...151,534,200
Ensembl chr 2:151,409,883...151,508,013
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar PMID:15466003 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
JBrowse link
G TTN-AS1 TTN antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 2:178,522,827...178,620,217
Ensembl chr 2:178,521,183...178,779,963
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
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 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685
Ensembl chr 3:49,416,778...49,422,685
JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232
JBrowse link
G C3orf84 chromosome 3 open reading frame 84 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,177,539...49,192,684
Ensembl chr 3:49,177,634...49,191,858
JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331
JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar
OMIM
PMID:14678799 PMID:20234391 PMID:21388311 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29036200 PMID:29134705 PMID:29337005 PMID:31097590 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,176...49,358,358
JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,198,428...49,258,106
Ensembl chr 3:49,198,428...49,258,106
JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,171,120...49,176,487
Ensembl chr 3:49,171,598...49,176,486
JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,121,114...49,133,066
Ensembl chr 3:49,121,114...49,133,118
JBrowse link
G NICN1 nicolin 1 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,946...49,429,326
Ensembl chr 3:49,422,946...49,429,326
JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,145...49,412,998
Ensembl chr 3:49,359,145...49,412,998
JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,412,206...49,416,476
Ensembl chr 3:49,412,206...49,416,475
JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712
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 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,053
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7695699 PMID:8218237 PMID:11707460 PMID:15689448 PMID:16130093 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20981092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 PMID:30564623 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,769...46,005,050
Ensembl chr21:45,981,769...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Bethlem myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP
EXP
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,207
Ensembl chr 2:237,324,003...237,414,207
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC105760.1 novel transcript IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,048,599...237,056,167
Ensembl chr 2:237,048,599...237,056,167
JBrowse link
G ACKR3 atypical chemokine receptor 3 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,537,131...236,582,358
Ensembl chr 2:236,567,787...236,582,354
JBrowse link
G CLCN5 chloride voltage-gated channel 5 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:14673707 PMID:25741868 NCBI chr  X:49,922,596...50,099,231
Ensembl chr  X:49,922,596...50,099,235
JBrowse link
G COL6A1 collagen type VI alpha 1 chain susceptibility IAGP Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 PMID:8782832 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16130093 PMID:16141002 PMID:16935502 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23661642 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28877744 PMID:28984114 PMID:29406609 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156, PMID:8782832 RGD:1600934 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,769...46,005,050
Ensembl chr21:45,981,769...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain susceptibility IAGP Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:1788629 PMID:4271325 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:21520333 PMID:22075033 PMID:23040494 PMID:23138527 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29419890 PMID:30564623 PMID:32860008, PMID:8782832 RGD:1600934 NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:9536084 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24907562 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:31044083 NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,207
Ensembl chr 2:237,324,003...237,414,207
JBrowse link
G COPS8 COP9 signalosome subunit 8 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,085,889...237,100,474
Ensembl chr 2:237,085,882...237,100,474
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr21:46,135,981...46,156,482
Ensembl chr21:46,136,262...46,155,579
JBrowse link
G LOC110121230 VISTA enhancer hs1951 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:237,313,177...237,316,630 JBrowse link
G LOC112840913 Sharpr-MPRA regulatory region 9900 IAGP ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 2:236,968,106...236,968,400 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 IAGP ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,053
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 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G LAMA2 laminin subunit alpha 2 treatment IAGP
ISO
ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related
ClinVar
OMIM
PMID:0055037 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9541105 PMID:9674786 PMID:9829280 PMID:10022829 PMID:10611118 PMID:10619025 PMID:10694916 PMID:10747011 PMID:10852549 PMID:11071490 PMID:11287370 PMID:11369186 PMID:11591858 PMID:11938437 PMID:12100448 PMID:12552556 PMID:12601554 PMID:16216942 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19294599 PMID:19388593 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21922472 PMID:21953594 PMID:22166137 PMID:22426012 PMID:22675738 PMID:23326386 PMID:23757202 PMID:23911319 PMID:24033266 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24534542 PMID:24611677 PMID:24957499 PMID:25124546 PMID:25214167 PMID:25326637 PMID:25332755 PMID:25525159 PMID:25663498 PMID:25741868 PMID:26104111 PMID:26304763 PMID:26436962 PMID:26467025 PMID:26607181 PMID:26633542 PMID:27159402 PMID:27353517 PMID:27447704 PMID:27708273 PMID:27854218 PMID:27858741 PMID:27858771 PMID:27896284 PMID:27932089 PMID:28182637 PMID:28445022 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:29706646 PMID:30055037 PMID:30147969 PMID:30301903 PMID:30373198 PMID:30827497 PMID:32860008, PMID:28714989 RGD:13605609 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
JBrowse link
G MFN2 mitofusin 2 IAGP ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy ClinVar PMID:15064763 PMID:16437557 PMID:16714318 PMID:16835246 PMID:17296794 PMID:19889647 PMID:21285398 PMID:22442078 PMID:24126688 PMID:24604904 PMID:24862862 PMID:24863639 PMID:25025039 PMID:25326637 PMID:25741868 PMID:26085578 PMID:26382835 PMID:26467025 PMID:26686600 PMID:26801520 PMID:27549087 PMID:27863451 PMID:28492532 PMID:31188717 NCBI chr 1:11,980,215...12,013,508
Ensembl chr 1:11,980,181...12,015,211
Ensembl chr 1:11,980,181...12,015,211
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP
ISO
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency
ClinVar
OMIM
PMID:9590299 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532, PMID:9354797 RGD:13601979 NCBI chr12:55,684,568...55,716,037
Ensembl chr12:55,684,568...55,716,043
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 IAGP associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
ClinVar
OMIM
PMID:10612827 PMID:10655060 PMID:10939567 PMID:11503164 PMID:11792809 PMID:12057196 PMID:12467752 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14749366 PMID:15140538 PMID:15148145 PMID:15205219 PMID:15372542 PMID:15475483 PMID:15622532 PMID:15961312 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17377071 PMID:17881656 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:22090424 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22491857 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23427149 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:25214167 PMID:25326635 PMID:25637381 PMID:25741868 PMID:26098624 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27876398 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:29893365 PMID:30055862 PMID:30165862, PMID:24508248 RGD:12791283 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
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 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with cataracts and intellectual disability ClinVar
OMIM
PMID:28190456 PMID:28190459 NCBI chr17:1,494,575...1,516,735
Ensembl chr17:1,494,577...1,516,742
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 FKTN fukutin IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26923585 PMID:27065010 PMID:28492532 PMID:30060766 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type ClinVar
OMIM
PMID:25741868 PMID:27008887 PMID:31794073 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar
OMIM
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 PMID:31211170 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,951
Ensembl chr 3:49,716,844...49,723,951
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 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,599,779...16,645,816
Ensembl chr 7:16,599,779...16,645,817
JBrowse link
G BZW2 basic leucine zipper and W2 domains 2 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,646,181...16,706,522
Ensembl chr 7:16,646,131...16,706,523
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar
OMIM
PMID:2328832 PMID:2522420 PMID:7604843 PMID:9492098 PMID:10738921 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G CRPPA-AS1 CRPPA antisense RNA 1 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar PMID:9492098 PMID:22522420 PMID:22522421 PMID:23288328 PMID:23390185 PMID:24120487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29382405 NCBI chr 7:16,210,486...16,270,604
Ensembl chr 7:16,210,484...16,270,604
JBrowse link
G LRRC72 leucine rich repeat containing 72 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,526,825...16,581,568
Ensembl chr 7:16,526,825...16,581,568
JBrowse link
G SOSTDC1 sclerostin domain containing 1 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 7:16,461,481...16,465,738
Ensembl chr 7:16,461,481...16,530,580
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191 PMID:12588800 PMID:15466003 PMID:16427280 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:22323514 PMID:23326386 PMID:25741868 PMID:26013959 PMID:28492532 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401 PMID:25558065 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FKRP fukutin related protein IAGP
IEA
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27848944 PMID:28454995 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP
IEA
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611 PMID:14627679 PMID:17044012 PMID:17559086 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26923585 PMID:27065010 PMID:28492532 PMID:28785732 PMID:30060766 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IEA OMIM:236670 MouseDO NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar
OMIM
PMID:11320179 PMID:12369018 PMID:15037715 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18752264 PMID:19222032 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25326635 PMID:25741868 PMID:28116189 PMID:28492532 PMID:28556411 PMID:31319225 PMID:32860008 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP
IEA
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar
OMIM
PMID:23217329 PMID:23519211 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:63,779,831...63,809,562
Ensembl chr12:63,779,842...63,809,562
JBrowse link
G RXYLT1-AS1 RXYLT1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar PMID:23217329 PMID:25741868 PMID:28492532 NCBI chr12:63,808,845...63,822,156
Ensembl chr12:63,804,739...63,822,156
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar
OMIM
PMID:23453667 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29273094 PMID:29302074 NCBI chr 1:235,440,654...235,504,481
Ensembl chr 1:235,447,190...235,504,452
JBrowse link
G TBCE tubulin folding cofactor E IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667 PMID:28492532 NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
Ensembl chr 1:235,367,360...235,452,443
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTA farnesyltransferase, CAAX box, alpha IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788
JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535
JBrowse link
G MIR4469 microRNA 4469 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,896,197...42,896,275
Ensembl chr 8:42,896,197...42,896,275
JBrowse link
G POMK protein O-mannose kinase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar
OMIM
PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,849,637...42,897,294
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 ClinVar
OMIM
PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:15894594 PMID:16701995 PMID:17559086 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22958903 PMID:24002165 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:28492532 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:30060766 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
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-) IAGP 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
OMIM
PMID:11709191 PMID:12588800 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:26908613 PMID:27493216 PMID:28492532 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: 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 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
ClinVar
OMIM
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:19155270 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20236121 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:28492532 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
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 IAGP ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar
OMIM
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 ClinVar
OMIM
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAG1 dystroglycan 1 IEP protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FKRP fukutin related protein IAGP ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IEP
IAGP
ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
ClinVar
OMIM
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
megaconial type congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHKB choline kinase beta IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, megaconial type
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, CHKB-related
ClinVar
OMIM
PMID:7767093 PMID:9427222 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25740612 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28492532 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,949...50,601,455
Ensembl chr22:50,578,949...50,601,455
JBrowse link
G CHKB-CPT1B CHKB-CPT1B readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Muscular dystrophy, congenital, megaconial type
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, CHKB-related
ClinVar PMID:7767093 PMID:9427222 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25740612 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28492532 NCBI chr22:50,568,861...50,582,999
Ensembl chr22:50,568,869...50,582,965
JBrowse link
muscular dystrophy-dystroglycanopathy 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:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:2522420 PMID:22522420 PMID:25741868 PMID:28492532 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G FKRP fukutin related protein ISS
IAGP
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
MouseDO
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 chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IEA
ISS
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IEA
IAGP
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
DNA:mutations: cds:multiple
MouseDO
ClinVar
PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 PMID:28492532 PMID:29437916 PMID:30257713, PMID:26310427 RGD:11530903 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,951
Ensembl chr 3:49,716,844...49,723,951
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IEA
ISS
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616094
MouseDO NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMK protein O-mannose kinase IEA OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IEA
ISS
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IEA OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
OMIM
ClinVar
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30257713 PMID:30684953 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,951
Ensembl chr 3:49,716,844...49,723,951
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 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
OMIM
ClinVar
PMID:11053679 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28116189 PMID:28492532 PMID:32860008 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
ClinVar
OMIM
PMID:16701995 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 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-) IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
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 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: 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 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FKTN fukutin IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED ClinVar
OMIM
PMID:17044012 PMID:17878207 PMID:19015585 PMID:19179078 PMID:19299310 PMID:19396839 PMID:20961758 PMID:23582336 PMID:24033266 PMID:25741868 PMID:25821721 PMID:26467025 PMID:26923585 PMID:28492532 PMID:30060766 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
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 IAGP ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 OMIM
ClinVar
PMID:31469168 NCBI chr 1:155,139,891...155,140,573
Ensembl chr 1:155,139,891...155,140,595
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 IAGP DNA:missense mutations: :p.A455D, p.V405L (human)
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5
ClinVar
OMIM
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15886712 PMID:16368217 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19955119 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27439679 PMID:28454995 PMID:28492532 PMID:29065428 PMID:31041397 PMID:31671740, PMID:14652796 RGD:1358626 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 ClinVar
OMIM
PMID:12966029 PMID:15661757 PMID:17878207 PMID:18414213 PMID:19067344 PMID:24709677 PMID:25741868 PMID:26467025 PMID:27159402 PMID:28454995 PMID:28492532, PMID:12966029 RGD:1358756 NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
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 IAGP ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:27854218 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,431,245...229,434,098
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis
ClinVar PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:21674524 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24950660 PMID:24951453 PMID:25214167 PMID:25476234 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:26633545 PMID:28492532 PMID:30611313 PMID:31680349 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SELENON selenoprotein N IAGP DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar
OMIM
PMID:1219264 PMID:7224095 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16365872 PMID:16498447 PMID:16779558 PMID:17365175 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:19285539 PMID:19557870 PMID:19763152 PMID:20307669 PMID:20623375 PMID:20937510 PMID:21131290 PMID:21670436 PMID:22406018 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:27863379 PMID:28492532 PMID:28558865 PMID:28688748 PMID:30921636 PMID:32860008, PMID:11528383 RGD:1599352 NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,176...25,818,221
JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802
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 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,053
JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: COL6A1-related Disorder
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar
OMIM
PMID:7695699 PMID:8218237 PMID:9724608 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17785673 PMID:17785674 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20882040 PMID:23572247 PMID:24038877 PMID:24801232 PMID:24959844 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28182637 PMID:28492532 PMID:30564623 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,769...46,005,050
Ensembl chr21:45,981,769...46,005,050
JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, digenic, col6a1/col6a2
ClinVar
OMIM
PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 PMID:15563506 PMID:15689448 PMID:16075202 PMID:16935502 PMID:19344236 PMID:19564581 PMID:20106987 PMID:20729548 PMID:22075033 PMID:23940025 PMID:24038877 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 NCBI chr21:46,098,071...46,132,849
Ensembl chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848
JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant
ClinVar
OMIM
PMID:11992252 PMID:15563506 PMID:15689448 PMID:18366090 PMID:19564581 PMID:20976770 PMID:23040494 PMID:25326635 PMID:25741868 PMID:26004199 PMID:28492532 NCBI chr 2:237,324,018...237,434,822
Ensembl chr 2:237,324,003...237,414,207
Ensembl chr 2:237,324,003...237,414,207
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 IAGP ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar
OMIM
PMID:7695699 PMID:8218237 PMID:8601036 PMID:10612821 PMID:19344236 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27159402 PMID:27348394 PMID:28492532 PMID:28973083 PMID:29342313 PMID:224334604 NCBI chr 6:75,084,326...75,206,262
Ensembl chr 6:75,084,326...75,206,053
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 chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:235,440,654...235,504,481
Ensembl chr 1:235,447,190...235,504,452
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629
JBrowse link
G CALM3 calmodulin 3 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,601,074...46,610,782
Ensembl chr19:46,601,074...46,610,782
JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr22:46,361,174...46,537,620
Ensembl chr22:46,360,834...46,537,620
Ensembl chr22:46,360,834...46,537,620
Ensembl chr22:46,360,834...46,537,620
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A EXP CTD Direct Evidence: marker/mechanism CTD PMID:22522420 PMID:22522421 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504
Ensembl chr 7:16,087,525...16,502,504
JBrowse link
G DACT3 dishevelled binding antagonist of beta catenin 3 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,647,551...46,661,182
Ensembl chr19:46,647,551...46,661,182
JBrowse link
G DAG1 dystroglycan 1 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:18923033, PMID:24824861 RGD:11537405, RGD:11537406 NCBI chr 3:49,468,703...49,535,618
Ensembl chr 3:49,468,703...49,535,618
JBrowse link
G FKRP fukutin related protein IAGP
EXP
DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19299310 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21293871 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22908982 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27363342 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30564623 PMID:31041397 PMID:31671740, PMID:20236121 RGD:11667969 NCBI chr19:46,746,015...46,758,575
Ensembl chr19:46,746,046...46,776,988
JBrowse link
G FKTN fukutin IAGP
EXP
ISO
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)
ClinVar
CTD
PMID:9690476 PMID:10545611 PMID:11165248 PMID:14627679 PMID:15833426 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:30060766, PMID:9690476, PMID:24824861, PMID:10545611, PMID:19266496 RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 9:105,558,117...105,655,950
Ensembl chr 9:105,558,122...105,653,820
Ensembl chr 9:105,558,122...105,653,820
JBrowse link
G FSD1L fibronectin type III and SPRY domain containing 1 like IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 9:105,442,183...105,552,433
Ensembl chr 9:105,447,796...105,552,433
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,951
Ensembl chr 3:49,716,844...49,723,951
JBrowse link
G GNG8 G protein subunit gamma 8 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,633,953...46,639,326
Ensembl chr19:46,634,076...46,634,685
JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP
EXP
ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr22:33,162,237...33,922,824
Ensembl chr22:33,162,226...33,922,841
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP
EXP
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
ClinVar
CTD
PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:30937090 PMID:30961548, PMID:23689641, PMID:15236414, PMID:11709191, PMID:22554691 RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,682...46,220,305
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:26060116 RGD:11532770 NCBI chr 3:43,079,229...43,106,085
Ensembl chr 3:43,079,232...43,106,079
JBrowse link
G POMK protein O-mannose kinase EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180
Ensembl chr 8:43,093,498...43,131,180
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP
EXP
DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
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
PMID:12369018 PMID:15637732 PMID:16575835 PMID:17559086 PMID:18640039 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:28116189 PMID:28492532 PMID:32860008, PMID:12369018, PMID:15637732, PMID:16575835 RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,902...131,523,806
Ensembl chr 9:131,502,902...131,523,806
JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP
EXP
DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15894594 RGD:11532761 NCBI chr14:77,274,956...77,320,885
Ensembl chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883
JBrowse link
G PRKD2 protein kinase D2 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,674,316...46,717,114
Ensembl chr19:46,674,275...46,717,127
JBrowse link
G PTGIR prostaglandin I2 receptor IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,610,040...46,625,097
Ensembl chr19:46,620,468...46,625,089
JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD
ClinVar
PMID:23217329 PMID:24033266 PMID:28492532 NCBI chr12:63,779,831...63,809,562
Ensembl chr12:63,779,842...63,809,562
JBrowse link
G STRN4 striatin 4 IAGP ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr19:46,719,509...46,746,475
Ensembl chr19:46,719,511...46,746,994
JBrowse link
G TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:30937090 PMID:30961548 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18950
    physical disorder 2814
      congenital muscular dystrophy 80
        Bethlem myopathy + 11
        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
        Ullrich congenital muscular dystrophy + 4
        Walker-Warburg syndrome + 37
        arthrogryposis due to muscular dystrophy 1
        congenital merosin-deficient muscular dystrophy 1A + 3
        congenital muscular dystrophy 1B 0
        congenital muscular dystrophy due to LMNA mutation 1
        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
        congenital muscular dystrophy merosin-positive 0
        congenital muscular dystrophy with cataracts and intellectual disability 1
        megaconial type congenital muscular dystrophy 2
        muscular dystrophy-dystroglycanopathy + 40
        rigid spine muscular dystrophy 1 4
Path 2
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  disease 18950
    disease of anatomical entity 17431
      nervous system disease 13499
        peripheral nervous system disease 2626
          neuropathy 2441
            neuromuscular disease 1934
              muscular disease 1271
                muscle tissue disease 870
                  myopathy 718
                    muscular dystrophy 346
                      congenital muscular dystrophy 80
                        Bethlem myopathy + 11
                        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
                        Ullrich congenital muscular dystrophy + 4
                        Walker-Warburg syndrome + 37
                        arthrogryposis due to muscular dystrophy 1
                        congenital merosin-deficient muscular dystrophy 1A + 3
                        congenital muscular dystrophy 1B 0
                        congenital muscular dystrophy due to LMNA mutation 1
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
                        congenital muscular dystrophy merosin-positive 0
                        congenital muscular dystrophy with cataracts and intellectual disability 1
                        megaconial type congenital muscular dystrophy 2
                        muscular dystrophy-dystroglycanopathy + 40
                        rigid spine muscular dystrophy 1 4
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