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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


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 3:127,860,002...127,913,677
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 9:98,809,171...98,887,060
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 6:58,847,550...59,124,309
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, alpha-dystroglycan related
ClinVar Annotator: match by term: Congenital muscular dystrophy		 ClinVar PMID:22265013 PMID:24677762 PMID:25741868 PMID:26467025 PMID:27149304 More... NCBI chr 4:85,035,840...85,051,917
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 1:19,492,126...20,140,056
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 chr19:11,609,004...12,057,174
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:10612827 PMID:10739764 PMID:10939567 PMID:11503164 PMID:12032588 More... NCBI chr 2:176,237,564...176,265,301
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 3:57,022,822...57,220,752
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 Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:17878207 PMID:18195152 PMID:18691338 PMID:19067344 PMID:20981092 More... NCBI chr 5:134,870,971...134,880,864
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 3:35,918,370...35,936,330
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 6:112,486,416...112,525,799
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 3:56,963,840...57,017,106
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 1:93,420,078...93,551,305
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 5:134,883,704...134,896,083
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:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:61,652,439...61,924,741 		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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,859,700...117,866,692
Ensembl chr 8:108,976,472...108,988,126 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852 		JBrowse link
G C8h3orf62 similar to human chromosome 3 open reading frame 62 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,958,583...117,963,137
Ensembl chr 8:109,036,030...109,097,895 		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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,025,192...118,040,143
Ensembl chr 8:109,146,359...109,165,216 		JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,002,336...118,019,337
Ensembl chr 8:109,124,762...109,140,791 		JBrowse link
G Dag1 dystroglycan 1 ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
OMIM:613818		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10875918 PMID:14678799 PMID:16112887 PMID:17576681 More... NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,142,009...118,147,082
Ensembl chr 8:109,265,676...109,268,568 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,905,462...117,906,588
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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,969,099...118,005,724
Ensembl chr 8:109,092,758...109,125,434 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,135,204...118,139,892
Ensembl chr 8:109,256,728...109,261,359 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,020,136...118,025,102
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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,056,899...118,069,090
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,142,627...118,142,717 JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,139,891...118,141,723
Ensembl chr 8:109,261,363...109,263,194 		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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,854,210...117,860,185
Ensembl chr 8:108,976,464...108,981,067 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,153,158...118,172,199
Ensembl chr 8:109,274,626...109,292,473 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,086,243...118,094,274
Ensembl chr 8:109,207,705...109,215,739 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,095,435...118,135,001
Ensembl chr 8:109,217,376...109,261,359 		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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,870,548...117,904,303
Ensembl chr 8:108,991,954...109,025,746 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,243,573...118,265,027
Ensembl chr 8:109,365,002...109,386,512 		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:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,867,153...117,871,132
Ensembl chr 8:108,988,590...108,991,564 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,069,227...118,080,283
Ensembl chr 8:109,190,724...109,201,741 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:117,912,576...117,957,934
Ensembl chr 8:109,036,099...109,080,427 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P ClinVar PMID:20234391 PMID:25614308 PMID:25934851 PMID:28492532 NCBI chr 8:118,146,608...118,153,024
Ensembl chr 8:109,268,079...109,274,499 		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
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures
OMIM:158810		 CTD
ClinVar
MouseDO		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:4793163 PMID:7695699 PMID:8218237 PMID:9536098 PMID:12840783 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures		 ClinVar PMID:7695699 PMID:8218237 PMID:9536098 PMID:15563506 PMID:15689448 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Bethlem Myopathy 1A 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 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,247,300...98,258,877
Ensembl chr 9:90,799,686...90,811,237 		JBrowse link
G Agap1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:97,487,382...97,922,870
Ensembl chr 9:90,039,605...90,470,958 		JBrowse link
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,869,899...100,924,030
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Ano7 anoctamin 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,364,915...101,392,711
Ensembl chr 9:93,917,524...93,945,323 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,001,939...101,007,425
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Asb1 ankyrin repeat and SOCS box-containing 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,566,852...99,588,321
Ensembl chr 9:92,120,306...92,136,376 		JBrowse link
G Asb18 ankyrin repeat and SOCS box-containing 18 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:97,979,018...98,043,609
Ensembl chr 9:90,531,596...90,595,848 		JBrowse link
G Atg4b autophagy related 4B, cysteine peptidase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,729,772...101,761,456
Ensembl chr 9:94,282,509...94,314,103 		JBrowse link
G Bok BCL2 family apoptosis regulator BOK ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,670,729...101,681,834
Ensembl chr 9:94,223,389...94,234,476 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:14673707 PMID:25741868 PMID:28492532 NCBI chr  X:17,857,260...18,011,844
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:25741868 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		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 Annotator: match by term: Bethlem myopathy 1A		 ClinVar
OMIM
RGD		 PMID:963533 PMID:1788629 PMID:7551830 PMID:7695699 PMID:7881296 More... RGD:1600934 NCBI chr20:11,905,690...11,924,111
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 Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar
RGD		 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 More... RGD:1600934 NCBI chr20:12,021,182...12,048,932
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 | ClinVar Annotator: match by term: Bethlem myopathy 1A
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1		 ClinVar PMID:3352914 PMID:3564626 PMID:7695699 PMID:8218237 PMID:8817344 More... NCBI chr 9:98,809,171...98,887,060
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 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,655,031...98,664,861
Ensembl chr 9:91,207,395...91,217,258 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,657,276...100,662,206
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G D2hgdh D-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,796,287...101,815,727
Ensembl chr 9:94,350,576...94,368,382 		JBrowse link
G Dtymk deoxythymidylate kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,762,899...101,771,733
Ensembl chr 9:94,315,552...94,324,870 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,920,249...100,921,624 JBrowse link
G Erfe erythroferrone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,404,512...99,412,383
Ensembl chr 9:91,956,977...91,964,846 		JBrowse link
G Espnl espin-like ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,358,907...99,385,439
Ensembl chr 9:91,912,049...91,935,292 		JBrowse link
G Farp2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,501,061...101,609,092
Ensembl chr 9:94,053,726...94,162,212 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
G Gal3st2 galactose-3-O-sulfotransferase 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,823,815...101,836,507
Ensembl chr 9:94,376,174...94,389,174 		JBrowse link
G Gbx2 gastrulation brain homeobox 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:97,957,304...97,959,883
Ensembl chr 9:90,509,633...90,512,212 		JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,843,645...100,871,458
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,974,580...100,995,330
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:93,949,913...94,018,048 		JBrowse link
G Hes6 hes family bHLH transcription factor 6 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,449,375...99,451,343
Ensembl chr 9:92,001,841...92,003,559 		JBrowse link
G Ilkap ILK associated serine/threonine phosphatase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,413,981...99,436,262
Ensembl chr 9:91,966,441...91,988,892 		JBrowse link
G Ing5 inhibitor of growth family, member 5 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,772,845...101,793,734
Ensembl chr 9:94,326,548...94,344,220 		JBrowse link
G Iqca1 IQ motif containing with AAA domain 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,074,389...98,190,233
Ensembl chr 9:90,626,744...90,742,618 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Klhl30 kelch-like family member 30 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,389,982...99,400,295
Ensembl chr 9:91,942,504...91,952,730 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:20848652 PMID:25741868 PMID:32524016 NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrrfip1 LRR binding FLII interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,039,590...99,167,805
Ensembl chr 9:91,643,197...91,720,250 		JBrowse link
G Mab21l4 mab-21 like 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,138,408...101,148,516
Ensembl chr 9:93,690,999...93,700,506 		JBrowse link
G Mlph melanophilin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,955,036...98,990,566
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Mterf4 mitochondrial transcription termination factor 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,281,560...101,286,236
Ensembl chr 9:93,834,144...93,838,864 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Neu4 neuraminidase 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,844,261...101,849,917
Ensembl chr 9:94,396,920...94,402,576 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,495,938...100,496,876
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,664,378...100,667,882
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Pask PAS domain containing serine/threonine kinase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,291,673...101,333,288
Ensembl chr 9:93,844,278...93,885,111 		JBrowse link
G Pdcd1 programmed cell death 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Per2 period circadian regulator 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,454,828...99,497,069
Ensembl chr 9:92,007,296...92,049,459 		JBrowse link
G Ppp1r7 protein phosphatase 1, regulatory subunit 7 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,333,472...101,358,589
Ensembl chr 9:93,886,143...93,914,850 		JBrowse link
G Prlh prolactin releasing hormone ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:98,991,628...98,996,515
Ensembl chr 9:91,547,901...91,548,818 		JBrowse link
G Rab17 RAB17, member RAS oncogene family ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,001,044...99,014,340
Ensembl chr 9:91,553,464...91,566,451 		JBrowse link
G Ramp1 receptor activity modifying protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,213,031...99,263,696
Ensembl chr 9:91,781,285...91,816,151 		JBrowse link
G Rbm44 RNA binding motif protein 44 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,178,706...99,204,344
Ensembl chr 9:91,731,115...91,756,772 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:100,921,053...100,933,748
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
G Scly selenocysteine lyase ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,337,796...99,358,487
Ensembl chr 9:91,890,306...91,910,941 		JBrowse link
G Septin2 septin 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,465,535...101,498,766
Ensembl chr 9:94,018,208...94,051,386 		JBrowse link
G Sned1 sushi, nidogen and EGF-like domains 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,221,497...101,281,401
Ensembl chr 9:93,774,119...93,830,694 		JBrowse link
G Stk25 serine/threonine kinase 25 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,609,218...101,621,458
Ensembl chr 9:94,161,836...94,174,244 		JBrowse link
G Thap4 THAP domain containing 4 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:101,689,935...101,729,656
Ensembl chr 9:94,242,581...94,282,306 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:92,073,640...92,108,977 		JBrowse link
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,822,242...99,866,722
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
G Ube2f ubiquitin-conjugating enzyme E2F (putative) ISO ClinVar Annotator: match by term: Bethlem myopathy 1A ClinVar PMID:26004199 PMID:28492532 NCBI chr 9:99,293,506...99,328,690
Ensembl chr 9:91,845,987...91,880,594 		JBrowse link
Bethlem Myopathy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1B ClinVar
OMIM		 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
Bethlem Myopathy 1C 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: Bethlem myopathy 1C OMIM
ClinVar		 PMID:3352914 PMID:8817344 PMID:9536084 PMID:15689448 PMID:17886299 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		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:27348394 PMID:28306225 More... NCBI chr 8:89,427,834...89,545,886
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 chr20:11,905,690...11,924,111
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:16199547 More... NCBI chr20:12,021,182...12,048,932
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:16141002 PMID:16935502 More... NCBI chr 9:98,809,171...98,887,060
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:15689448 PMID:16130093 PMID:17886299 PMID:18414213 PMID:20729548 More... NCBI chr20:12,054,710...12,068,219
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 Aadac arylacetamide deacetylase ISO ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative ClinVar PMID:21681106 PMID:25666259 PMID:27854218 NCBI chr 2:146,293,449...146,351,061
Ensembl chr 2:144,135,319...144,174,734 		JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A ClinVar PMID:21665257 PMID:24448499 PMID:25741868 PMID:26467025 PMID:26580448 More... NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437 		JBrowse link
G Bche butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G C8h11orf65 similar to human chromosome 11 open reading frame 65 ISO ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A ClinVar PMID:21665257 PMID:24448499 PMID:25741868 PMID:26467025 PMID:26580448 More... NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:53,796,366...53,824,748 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient ClinVar PMID:25741868 NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:107,692,770...107,817,478 		JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO
ISS		 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 | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative
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 | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative
OMIM:607855
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: LAMA2-related condition | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy | ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative | ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin deficient or partially deficient		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 More... RGD:13605609 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy ClinVar PMID:124622 PMID:12826609 PMID:25326637 PMID:25741868 PMID:26619011 More... NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		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 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028 		JBrowse link
G Itga7 integrin subunit alpha 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613204
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency | ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY | ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 More... RGD:13601979 NCBI chr 7:1,944,447...1,973,347
Ensembl chr 7:1,359,940...1,388,450 		JBrowse link
G Tmt1b thiol methyltransferase 1B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency ClinVar PMID:28492532 NCBI chr 7:1,973,334...1,975,980
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
ISS		 ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
OMIM:613205
CTD Direct Evidence: marker/mechanism
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:12791283 NCBI chr 2:176,237,564...176,265,301
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:9536098 PMID:9541105 PMID:9674786 More... NCBI chr 1:19,492,126...20,140,056
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 | ClinVar Annotator: match by term: INPP5K-related condition OMIM
ClinVar		 PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 PMID:33792664 NCBI chr10:60,974,183...60,995,047
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 PMID:25741868 NCBI chr 1:86,607,769...86,615,045
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:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:25741868 NCBI chr10:52,384,810...52,408,698
Ensembl chr10:51,885,913...51,946,295 		JBrowse link
Congenital Muscular Dystrophy with Rapid Progression term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bet1 Bet1 golgi vesicular membrane trafficking protein ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with rapid progression OMIM
ClinVar		 PMID:25741868 PMID:34779586 NCBI chr 4:33,070,892...33,081,162
Ensembl chr 4:32,116,235...32,126,617 		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 | ClinVar Annotator: match by term: TRIP4-Related Disorders OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26924529 PMID:27008887 PMID:28492532 More... NCBI chr 8:75,248,352...75,334,802
Ensembl chr 8:66,353,248...66,439,774 		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 5:134,870,971...134,880,864
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 5:134,883,704...134,896,083
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 1:211,772,644...211,774,866
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 PMID:28492532 NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED ClinVar PMID:25741868 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 OMIM
ClinVar		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1		 ClinVar PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 More... NCBI chr 6:112,486,416...112,525,799
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 Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 ClinVar PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23217329 PMID:23519211 More... NCBI chr 7:59,656,274...59,668,140
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 chr17:56,030,409...56,072,952
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:25741868 PMID:26663670 PMID:28492532 PMID:33290285 NCBI chr17:55,983,627...56,031,578
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, subunit alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:72,767,864...72,786,193
Ensembl chr16:66,065,132...66,083,460 		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 chr16:72,807,967...72,840,180
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 chr16:72,656,929...72,751,696
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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 More... NCBI chr16:72,788,842...72,801,122
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 chr16:72,631,638...72,656,893
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 chr16:72,608,096...72,612,690
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:22219654 PMID:23877401 PMID:25558065 More... NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:202,343,240...202,346,065 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Brms1 BRMS1, transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,775,142...211,784,411
Ensembl chr 1:202,345,704...202,355,028 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,634,067...211,657,898
Ensembl chr 1:202,204,693...202,228,541 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,693,807...211,696,667
Ensembl chr 1:202,264,471...202,267,756 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,710,640...211,728,038
Ensembl chr 1:202,281,958...202,286,724 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,659,416...211,672,280
Ensembl chr 1:202,232,228...202,242,857 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,785,107...211,789,755
Ensembl chr 1:202,355,890...202,362,729 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 ClinVar PMID:22219654 PMID:28492532 NCBI chr 1:211,756,588...211,764,561
Ensembl chr 1:202,327,354...202,335,171 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type 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 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED OMIM
ClinVar		 PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 More... NCBI chr 6:112,486,416...112,525,799
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 OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,870,971...134,880,864
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 A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED		 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
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: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 OMIM
ClinVar		 PMID:6368217 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 More... NCBI chr 1:86,607,769...86,615,045
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 1:86,614,193...86,639,959
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:12966029 PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 More... NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
congenital muscular dystrophy-dystroglycanopathy type 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 6:58,616,251...58,657,634
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 6:58,555,362...58,615,921
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:2522420 PMID:7604843 PMID:9492098 PMID:9536098 More... NCBI chr 6:58,847,550...59,124,309
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 6:58,662,611...58,722,844
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 6:58,778,623...58,782,797
Ensembl chr 6:53,051,354...53,055,579 		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 8:130,877,834...130,903,947
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 8:130,438,703...130,451,106
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 8:130,719,177...130,838,243
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 8:130,335,797...130,391,658
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 8:130,031,012...130,037,702
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 8:129,517,576...129,544,661
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 8:130,455,622...130,457,592
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 8:130,488,279...130,521,242
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 8:130,324,510...130,331,580
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 8:130,391,658...130,400,888
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 8:130,318,793...130,324,309
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 8:130,474,743...130,481,529
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 8:130,125,641...130,132,872
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 8:130,255,541...130,298,001
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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED OMIM
ClinVar		 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26436962 PMID:26467025 More... NCBI chr 8:130,522,607...130,538,273
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 8:130,223,349...130,249,079
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 8:130,657,204...130,711,461
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 8:130,252,774...130,255,388
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 8:129,861,967...130,016,870
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 8:129,548,431...129,843,555
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 8:130,181,219...130,217,098
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 8:130,300,255...130,311,874
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: DAG1-related condition | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 OMIM
ClinVar		 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 More... NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
congenital myasthenic syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:254300
ClinVar Annotator: match by term: Congenital myasthenic syndrome 10		 OMIM
CTD
MouseDO
ClinVar		 PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 More... NCBI chr14:79,890,051...79,924,081
Ensembl chr14:75,666,744...75,699,386 		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: Dystonia 27 OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:15689448 PMID:18378883 PMID:18414213 More... NCBI chr 9:98,809,171...98,887,060
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 8:117,769,517...117,834,347
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 PMID:25741868 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO
ISS		 ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related
OMIM:253800		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 More... RGD:11537476 NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Myh1 myosin heavy chain 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 ClinVar PMID:25741868 NCBI chr10:52,384,810...52,408,698
Ensembl chr10:51,885,913...51,946,295 		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:28492532 NCBI chr 7:122,272,808...122,274,594
Ensembl chr 7:120,393,179...120,396,331 		JBrowse link
G Chkb choline kinase beta ISO
ISS		 ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
CTD Direct Evidence: marker/mechanism
OMIM:602541		 OMIM
ClinVar
CTD
MouseDO		 PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:122,380,592...122,385,102
Ensembl chr 7:120,500,984...120,504,461 		JBrowse link
G Cimap1b ciliary microtubule associated protein 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,323,860...122,326,921
Ensembl chr 7:120,444,232...120,446,749 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,370,974...122,380,473
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:28492532 NCBI chr 7:122,331,708...122,335,364
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:28492532 NCBI chr 7:122,297,971...122,302,423
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:28492532 NCBI chr 7:122,284,660...122,287,158
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:28492532 NCBI chr 7:122,302,550...122,319,570
Ensembl chr 7:120,422,956...120,439,938 		JBrowse link
G Pepd peptidase D ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:8198124 PMID:10721675 PMID:12384772 PMID:17142620 PMID:25741868 More... NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:87,536,609...87,681,231 		JBrowse link
G Sbf1 SET binding factor 1 ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy ClinVar PMID:21665002 PMID:28492532 NCBI chr 7:122,237,968...122,264,591
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:28492532 NCBI chr 7:122,336,427...122,362,608
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:28492532 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21549339 PMID:23449775 More... NCBI chr10:89,085,323...89,105,665
Ensembl chr10:88,586,299...88,605,625 		JBrowse link
muscular dystrophy-dystroglycanopathy 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 ClinVar PMID:23453667 PMID:25741868 PMID:28492532 PMID:29791932 NCBI chr17:56,030,409...56,072,952
Ensembl chr17:51,334,921...51,377,469 		JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:2522420 PMID:22522420 PMID:25741868 PMID:28492532 NCBI chr 6:58,847,550...59,124,309
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:10838249 PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 More... NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:17559086 PMID:17878207 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:68,340,028...68,396,409 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO DNA:mutations: cds:multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy		 ClinVar
RGD		 PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 More... RGD:11530903 NCBI chr 8:117,616,029...117,622,866
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		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 1:211,772,644...211,774,866
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 1:86,607,769...86,615,045
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 5:73,134,746...73,191,772
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 chr19:11,609,004...12,057,174
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 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO
ISS		 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
OMIM:613155		 OMIM
ClinVar
MouseDO		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... NCBI chr 3:35,918,370...35,936,330
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:16199547 PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 More... NCBI chr 8:117,616,029...117,622,866
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 2:176,974,290...176,974,805
Ensembl chr 2:174,676,363...174,677,668
Ensembl chr15:174,676,363...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:9536098 PMID:15894594 PMID:16701995 PMID:17559086 PMID:17576681 More... NCBI chr 6:112,486,416...112,525,799
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:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 More... NCBI chr 5:134,870,971...134,880,864
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:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 More... NCBI chr 5:134,883,704...134,896,083
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:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 More... NCBI chr 5:73,134,746...73,191,772
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
ISS		 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: Muscular dystrophy-dystroglycanopathy type B5
OMIM:606612
DNA:missense mutations: :p.A455D, p.V405L (human)		 OMIM
ClinVar
MouseDO
RGD		 PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 More... RGD:1358626 NCBI chr 1:86,607,769...86,615,045
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 7:19,736,282...19,793,737
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 chr14:81,956,777...82,087,392
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 7:19,696,951...19,725,180
Ensembl chr 7:17,809,231...17,837,530 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6
OMIM:608840		 OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... RGD:1358756 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		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 7:19,795,393...19,814,875
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 chr14:81,778,495...81,843,084
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 chr20:12,475,096...12,518,186
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 7:19,244,032...19,701,571
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 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		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 chr14:81,920,819...81,930,202
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 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 OMIM
ClinVar		 PMID:24556084 PMID:24925318 PMID:25741868 PMID:28492532 PMID:29910097 More... NCBI chr16:72,788,842...72,801,122
Ensembl chr16:66,088,000...66,098,388 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 ClinVar PMID:1236901 PMID:12369018 PMID:15637732 PMID:16575835 PMID:25741868 More... NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		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 PMID:32570172 PMID:35131284 NCBI chr 8:130,522,607...130,538,273
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:25182138 PMID:27854218 NCBI chr19:68,781,168...68,784,194
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
G Hmgcs1 3-hydroxy-3-methylglutaryl-CoA synthase 1 ISO ClinVar Annotator: match by term: Rigid spine syndrome ClinVar PMID:25741868 NCBI chr 2:53,379,457...53,399,807
Ensembl chr 2:51,649,497...51,667,100 		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 5:152,239,296...152,262,290
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 5:152,057,839...152,197,737
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:21674524 PMID:21911697 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G Selenon selenoprotein N ISO
ISS		 DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE | ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy | ClinVar Annotator: match by term: MYOPATHY, SEPN1-RELATED | ClinVar Annotator: match by term: SELENON-related condition | ClinVar Annotator: match by term: SEPN1-related disorder
CTD Direct Evidence: marker/mechanism
OMIM:602771		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 More... RGD:1599352 NCBI chr 5:152,032,330...152,046,707
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		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: COL6A1-related Disorder
OMIM:254090		 CTD
ClinVar
MouseDO		 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11865138 PMID:15689448 More... NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,957...11,924,597 		JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISS OMIM:254090 MouseDO NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
Ullrich congenital muscular dystrophy 1A 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: Ullrich congenital muscular dystrophy 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr 8:89,427,834...89,545,886
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 condition | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A OMIM
ClinVar		 PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 More... NCBI chr20:11,905,690...11,924,111
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 1A ClinVar PMID:7695699 PMID:8218237 PMID:15689448 PMID:16199547 PMID:18366090 More... NCBI chr20:12,021,182...12,048,932
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 1A ClinVar PMID:3564626 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 More... NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Ullrich congenital muscular dystrophy 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B OMIM
ClinVar		 PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 More... NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
Ullrich congenital muscular dystrophy 1C 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: Ullrich congenital muscular dystrophy 1C OMIM
ClinVar		 PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 More... NCBI chr 9:98,809,171...98,887,060
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:7642694 PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 More... NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cox7a2 cytochrome c oxidase subunit 7A2 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,597,051...89,611,032
Ensembl chr 8:80,716,825...80,720,264
Ensembl chr14:80,716,825...80,720,264 		JBrowse link
G Filip1 filamin A interacting protein 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,641,509...89,836,772
Ensembl chr 8:80,764,604...80,922,549 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Senp6 SUMO specific peptidase 6 ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,868,115...89,951,803
Ensembl chr 8:80,989,052...81,067,170 		JBrowse link
G Tmem30a transmembrane protein 30A ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 ClinVar PMID:28492532 NCBI chr 8:89,608,975...89,637,421
Ensembl chr 8:80,729,619...80,753,248 		JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:72,473,676...72,596,563
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:6,782,389...6,799,034
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 chr17:56,030,409...56,072,952
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 1:211,772,644...211,774,866
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 1:86,718,761...86,725,869
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 7:118,867,450...119,004,859
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 chr16:84,885,597...84,996,482
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 6:58,847,550...59,124,309
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 1:86,674,989...86,686,722
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 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Chemke syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:12,152,346...12,165,983
Ensembl chr  X:9,479,532...9,493,168 		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: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1464708 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 More... RGD:11667969 NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
DNA:insertion:exon:c.1167insA (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple		 ClinVar
CTD
RGD		 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 More... RGD:1598929, RGD:11576320, RGD:11537406, RGD:11062579 NCBI chr 5:73,134,746...73,191,772
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 5:73,052,565...73,130,292
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 8:117,616,029...117,622,866
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 1:86,692,609...86,696,463
Ensembl chr 1:77,564,515...77,568,371 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy		 CTD
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
DNA:missense mutations, nonsense mutation: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)		 CTD
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 More... RGD:11532772, RGD:11065512, RGD:1554293, RGD:11071487 NCBI chr 5:134,870,971...134,880,864
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 8:130,522,607...130,538,273
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 chr16:72,788,842...72,801,122
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
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple		 ClinVar
CTD
RGD		 PMID:1236901 PMID:9536098 PMID:11053679 PMID:11320179 PMID:12369018 More... RGD:731235, RGD:11073321, RGD:11532686 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:15,520,481...15,538,581 		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
ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 More... RGD:11532761 NCBI chr 6:112,486,416...112,525,799
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 1:86,640,095...86,670,476
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 1:86,707,690...86,710,073
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:23519211 PMID:24033266 PMID:25741868 PMID:27733679 More... NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:57,770,842...57,782,657 		JBrowse link
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:72,857,323...73,037,279
Ensembl chr 5:68,063,618...68,241,909 		JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:86,614,193...86,639,959
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:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:73,206,372...73,212,929
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:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 More... NCBI chr 5:73,255,662...73,291,383
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 5:134,883,704...134,896,083
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 19139
    physical disorder 5206
      congenital muscular dystrophy 210
        Collagen VI-related Myopathy + 69
        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 1
        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
        MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES 1
        Walker-Warburg syndrome + 71
        congenital merosin-deficient muscular dystrophy 1A + 7
        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 with cataracts and intellectual disability 1
        congenital myasthenic syndrome 10 1
        megaconial type congenital muscular dystrophy 12
        muscular dystrophy-dystroglycanopathy + 90
        rigid spine muscular dystrophy 1 6
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1358
                  myopathy 1049
                    muscular dystrophy 654
                      congenital muscular dystrophy 210
                        Collagen VI-related Myopathy + 69
                        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 1
                        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
                        MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES 1
                        Walker-Warburg syndrome + 71
                        congenital merosin-deficient muscular dystrophy 1A + 7
                        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 with cataracts and intellectual disability 1
                        congenital myasthenic syndrome 10 1
                        megaconial type congenital muscular dystrophy 12
                        muscular dystrophy-dystroglycanopathy + 90
                        rigid spine muscular dystrophy 1 6
paths to the root