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muscular dystrophy-dystroglycanopathy type B6 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:muscular dystrophy-dystroglycanopathy type B6
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Accession:DOID:0110637 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)
Synonyms:exact_synonym: MDC1D;   MDDGB6;   congenital muscular dystrophy, LARGE-related;   congenital muscular dystrophy, type 1D;   congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6;   congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6;   muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6;   muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
 xref: MESH:C563844;   MIM:608840;   MONDO:0012138;   ORDO:98894

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muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624750:1,997,493...2,043,910
Ensembl chrNW_004624750:2,012,784...2,043,932 		JBrowse link
G G BPIFC BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:15,244,809...15,287,890
Ensembl chr19:15,245,243...15,283,430 		JBrowse link
G P BPIFC BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,526,928...12,578,958
Ensembl chr 5:12,525,806...12,578,954 		JBrowse link
G S Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004936492:7,299,085...7,332,518
Ensembl chrNW_004936492:7,299,085...7,332,518 		JBrowse link
G D BPIFC BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:30,948,913...31,009,364
Ensembl chr10:30,965,535...31,009,044 		JBrowse link
G B BPIFC BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,420,450...13,481,074
Ensembl chr22:31,275,046...31,317,832 		JBrowse link
G C Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955405:41,376,471...41,403,410
Ensembl chrNW_004955405:41,376,471...41,403,418 		JBrowse link
G R Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,848,787...17,905,993
Ensembl chr 7:17,861,007...17,905,919 		JBrowse link
G M Bpifc BPI fold containing family C ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:85,795,555...85,847,724
Ensembl chr10:85,795,204...85,847,759 		JBrowse link
G H BPIFC BPI fold containing family C IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,413,845...32,464,446
Ensembl chr22:32,413,845...32,464,484 		JBrowse link
G H C22orf42 chromosome 22 open reading frame 42 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,149,006...32,160,448
Ensembl chr22:32,149,006...32,159,322 		JBrowse link
G B C23H22orf42 chromosome 23 C22orf42 homolog ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,163,015...13,186,335 JBrowse link
G G CUNH22orf42 chromosome unknown C22orf42 homolog ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532
G N Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624747:8,169,035...8,310,945
Ensembl chrNW_004624747:8,168,321...8,310,457 		JBrowse link
G G DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:14,634,836...14,798,050
Ensembl chr19:14,635,947...14,787,591 		JBrowse link
G P DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,421,788...48,523,530
Ensembl chr14:48,421,880...48,523,593 		JBrowse link
G S Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004936755:871,935...1,024,538
Ensembl chrNW_004936755:872,815...1,024,057 		JBrowse link
G D DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr26:24,629,369...24,754,728
Ensembl chr26:24,630,295...24,754,256 		JBrowse link
G B DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:12,774,147...12,929,261
Ensembl chr22:30,630,110...30,781,578 		JBrowse link
G C Depdc5 DEP domain containing 5, GATOR1 subcomplex subunit ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955455:5,881,631...6,005,514
Ensembl chrNW_004955455:5,881,691...6,003,035 		JBrowse link
G R 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 M Depdc5 DEP domain containing 5 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:33,020,996...33,151,581
Ensembl chr 5:33,021,045...33,151,580 		JBrowse link
G H DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033 		JBrowse link
G N Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624750:1,977,666...1,997,408
Ensembl chrNW_004624750:1,977,761...1,997,231 		JBrowse link
G G FBXO7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:15,300,135...15,324,256
Ensembl chr19:15,300,158...15,323,956 		JBrowse link
G P FBXO7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,505,646...12,526,206
Ensembl chr 5:12,505,654...12,526,232 		JBrowse link
G S Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004936492:7,261,442...7,276,779
Ensembl chrNW_004936492:7,261,009...7,276,943 		JBrowse link
G D FBXO7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:30,928,059...30,948,858
Ensembl chr10:30,928,329...30,948,977 		JBrowse link
G B FBXO7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,481,255...13,505,301
Ensembl chr22:31,335,423...31,359,224 		JBrowse link
G C Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955405:41,429,421...41,449,670
Ensembl chrNW_004955405:41,433,082...41,453,909 		JBrowse link
G R 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 M Fbxo7 F-box protein 7 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:85,856,313...85,887,737
Ensembl chr10:85,857,836...85,887,737 		JBrowse link
G H FBXO7 F-box protein 7 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,474,811...32,498,829
Ensembl chr22:32,474,676...32,498,829 		JBrowse link
G N Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... NCBI chrNW_004624750:1,190,712...1,524,051
Ensembl chrNW_004624750:1,286,336...1,527,159 		JBrowse link
G G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... NCBI chr19:16,080,482...16,704,968
Ensembl chr19:16,080,430...16,549,495 		JBrowse link
G P LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More...
G S Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... NCBI chrNW_004936492:6,160,979...6,657,491
Ensembl chrNW_004936492:6,289,517...6,659,465 		JBrowse link
G D LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... NCBI chr10:29,875,381...30,396,934
Ensembl chr10:29,919,521...30,395,787 		JBrowse link
G B LARGE1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... NCBI chr22:14,077,463...14,929,250 JBrowse link
G C Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 OMIM
ClinVar		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... NCBI chrNW_004955405:41,891,430...42,225,066
Ensembl chrNW_004955405:41,931,058...42,139,608 		JBrowse link
G R Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6
OMIM:608840		 ClinVar
MouseDO
OMIM
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 M Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO
IAGP		 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 chr 8:73,541,227...74,080,164
Ensembl chr 8:73,541,227...74,080,168 		JBrowse link
G H LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP
ISS		 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6
OMIM:608840		 ClinVar
MouseDO
OMIM
RGD		 PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17436019 More... RGD:1358756 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G N LOC101711381 low affinity sodium-glucose cotransporter ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624747:8,562,572...8,598,746
Ensembl chrNW_004624747:8,562,572...8,598,746 		JBrowse link
G G LOC103223202 chromosome 19 C22orf24 homolog ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:14,815,602...14,821,401 JBrowse link
G H LOC130067280 ATAC-STARR-seq lymphoblastoid silent region 13648 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:25741868 NCBI chr22:33,920,004...33,920,103 JBrowse link
G H LOC130067281 ATAC-STARR-seq lymphoblastoid silent region 13649 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar NCBI chr22:33,920,374...33,920,523 JBrowse link
G N 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 chrNW_004624906:2,120,759...2,131,024
Ensembl chrNW_004624906:2,119,684...2,135,656 		JBrowse link
G 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 chr20:86,588,049...86,597,576
Ensembl chr20:86,588,550...86,599,107 		JBrowse link
G P 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 6:165,212,828...165,222,412
Ensembl chr 6:165,212,833...165,222,409 		JBrowse link
G S 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 chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G D 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 chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161 		JBrowse link
G B 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 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137 		JBrowse link
G C 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 chrNW_004955464:12,076,815...12,086,961
Ensembl chrNW_004955464:12,077,406...12,086,700 		JBrowse link
G R 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 M Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		JBrowse link
G H POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G B RFPL2 ret finger protein like 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,207,617...13,216,472
Ensembl chr22:31,062,558...31,068,437 		JBrowse link
G H RFPL2 ret finger protein like 2 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,190,438...32,205,073
Ensembl chr22:32,190,435...32,205,073 		JBrowse link
G H RFPL3 ret finger protein like 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,354,885...32,361,161
Ensembl chr22:32,354,885...32,361,161 		JBrowse link
G H RFPL3S RFPL3 antisense IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,359,906...32,371,264
Ensembl chr22:32,359,886...32,382,106 		JBrowse link
G N 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 chrNW_004624750:2,045,093...2,062,640
Ensembl chrNW_004624750:2,045,092...2,064,233 		JBrowse link
G 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 chr19:15,216,939...15,243,259
Ensembl chr19:15,216,556...15,243,132 		JBrowse link
G P 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 5:12,580,293...12,605,722
Ensembl chr 5:12,580,294...12,613,852 		JBrowse link
G S 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 chrNW_004936492:7,334,420...7,353,745
Ensembl chrNW_004936492:7,334,154...7,356,797 		JBrowse link
G D 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 chr10:31,010,841...31,034,208
Ensembl chr10:31,010,878...31,033,229 		JBrowse link
G B 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 chr22:13,394,160...13,418,862
Ensembl chr22:31,248,280...31,273,030 		JBrowse link
G C 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 chrNW_004955405:41,360,370...41,375,215
Ensembl chrNW_004955405:41,360,370...41,375,215 		JBrowse link
G R Rtcb RNA 2',3'-cyclic phosphate and 5'-OH ligase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 7:17,907,668...17,927,136
Ensembl chr 7:17,907,705...17,927,132 		JBrowse link
G M 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 chr10:85,774,501...85,793,657
Ensembl chr10:85,774,501...85,793,687 		JBrowse link
G H RTCB RNA 2',3'-cyclic phosphate and 5'-OH ligase IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,387,582...32,412,247
Ensembl chr22:32,387,582...32,412,248 		JBrowse link
G N Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624747:8,368,446...8,542,573
Ensembl chrNW_004624747:8,452,616...8,540,421 		JBrowse link
G G SLC5A1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:14,924,954...14,999,369
Ensembl chr19:14,928,160...15,002,498 		JBrowse link
G P SLC5A1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,566,400...48,704,145
Ensembl chr14:48,628,224...48,705,841 		JBrowse link
G D SLC5A1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr26:24,884,853...24,956,190
Ensembl chr26:24,884,129...24,958,122 		JBrowse link
G B SLC5A1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,070,853...13,140,948
Ensembl chr22:30,924,169...30,992,046 		JBrowse link
G C Slc5a1 solute carrier family 5 member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955455:6,158,773...6,236,950
Ensembl chrNW_004955455:6,158,959...6,236,189 		JBrowse link
G R 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 M Slc5a1 solute carrier family 5 (sodium/glucose cotransporter), member 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:33,261,563...33,320,043
Ensembl chr 5:33,261,563...33,320,214 		JBrowse link
G H SLC5A1 solute carrier family 5 member 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,043,261...32,113,029
Ensembl chr22:32,043,261...32,113,029 		JBrowse link
G G SLC5A4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:15,043,810...15,080,535
Ensembl chr19:15,044,069...15,079,766 		JBrowse link
G P SLC5A4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr14:48,708,047...48,741,440
Ensembl chr14:48,708,047...48,741,440 		JBrowse link
G D SLC5A4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr26:24,966,469...25,026,600
Ensembl chr26:24,966,989...25,026,867 		JBrowse link
G B SLC5A4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,229,789...13,267,477
Ensembl chr22:31,084,256...31,120,946 		JBrowse link
G C Slc5a4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955455:6,250,161...6,308,688
Ensembl chrNW_004955455:6,250,836...6,292,352 		JBrowse link
G R Slc5a4 solute carrier family 5 member 4 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr20:12,475,644...12,518,738
Ensembl chr20:12,475,644...12,518,738 		JBrowse link
G H SLC5A4 solute carrier family 5 member 4 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,218,464...32,355,063
Ensembl chr22:32,218,464...32,255,347 		JBrowse link
G M Slc5a4a solute carrier family 5, member 4a ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:75,983,285...76,025,099
Ensembl chr10:75,983,285...76,025,099 		JBrowse link
G N Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624750:1,663,309...1,976,738
Ensembl chrNW_004624750:1,699,107...1,972,252 		JBrowse link
G G SYN3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:15,330,179...15,821,965 JBrowse link
G P SYN3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,017,741...12,501,995
Ensembl chr 5:12,473,793...12,500,076 		JBrowse link
G S Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375 		JBrowse link
G D SYN3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:30,475,134...30,927,758
Ensembl chr10:30,482,870...30,923,257 		JBrowse link
G B SYN3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798 		JBrowse link
G C Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955405:41,450,081...41,762,894
Ensembl chrNW_004955405:41,455,465...41,762,920 		JBrowse link
G R 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 M Syn3 synapsin III ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760 		JBrowse link
G H SYN3 synapsin III IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,507,820...33,058,381
Ensembl chr22:32,507,820...33,058,381 		JBrowse link
G N Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004624750:1,776,197...1,817,279
Ensembl chrNW_004624750:1,775,744...1,817,385 		JBrowse link
G G TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449 		JBrowse link
G P TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:12,185,816...12,242,599
Ensembl chr 5:12,185,818...12,242,581 		JBrowse link
G S Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190 		JBrowse link
G D TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:30,627,154...30,681,520
Ensembl chr10:30,627,154...30,694,288 		JBrowse link
G B TIMP3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964 		JBrowse link
G C Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813 		JBrowse link
G R 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 M Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
G H TIMP3 TIMP metallopeptidase inhibitor 3 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:32,801,705...32,863,041
Ensembl chr22:32,801,705...32,863,041 		JBrowse link
G N Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chrNW_004624906:2,108,324...2,118,571
Ensembl chrNW_004624906:2,113,726...2,119,505 		JBrowse link
G 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 chr20:86,599,933...86,613,244
Ensembl chr20:86,599,214...86,605,426 		JBrowse link
G P 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 6:165,224,619...165,229,516
Ensembl chr 6:165,224,622...165,230,217 		JBrowse link
G S Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015 		JBrowse link
G D TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245 		JBrowse link
G B 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 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828 		JBrowse link
G C Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chrNW_004955464:12,089,589...12,095,000
Ensembl chrNW_004955464:12,090,038...12,094,827 		JBrowse link
G R 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 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G M 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 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G H TSPAN1 tetraspanin 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:17878207 PMID:25741868 PMID:28492532 PMID:36964972 NCBI chr 1:46,175,087...46,196,489
Ensembl chr 1:46,175,073...46,185,962 		JBrowse link
G N 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 chrNW_004624747:8,350,552...8,362,610
Ensembl chrNW_004624747:8,350,474...8,363,576 		JBrowse link
G 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 chr19:14,825,963...14,839,668
Ensembl chr19:14,826,135...14,840,325 		JBrowse link
G P 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 chr14:48,544,031...48,556,496
Ensembl chr14:48,544,173...48,556,490 		JBrowse link
G S 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 chrNW_004936755:1,597,487...1,608,915
Ensembl chrNW_004936755:1,597,445...1,609,003 		JBrowse link
G D 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 chr26:24,785,374...24,796,603
Ensembl chr26:24,785,368...24,795,778 		JBrowse link
G B 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 chr22:12,966,653...12,979,695
Ensembl chr22:30,819,821...30,831,804 		JBrowse link
G C 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 chrNW_004955455:6,045,919...6,057,729
Ensembl chrNW_004955455:6,045,919...6,057,729 		JBrowse link
G R 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
G M Ywhah tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr 5:33,176,160...33,185,310
Ensembl chr 5:33,176,160...33,185,310 		JBrowse link
G H YWHAH tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:31,944,535...31,957,603
Ensembl chr22:31,944,522...31,957,603 		JBrowse link
G B YWHAH-AS1 YWHAH antisense RNA 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:12,929,416...12,967,617 JBrowse link
G H YWHAH-AS1 YWHAH antisense RNA 1 IAGP ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 ClinVar PMID:28492532 NCBI chr22:31,933,521...31,945,366
Ensembl chr22:31,907,140...31,945,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Neurodevelopmental Disorders 76987
        intellectual disability 45595
          muscular dystrophy-dystroglycanopathy type B6 130
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        peripheral nervous system disease 45985
          neuropathy 43737
            neuromuscular disease 33680
              muscular disease 23373
                muscle tissue disease 14455
                  myopathy 10826
                    muscular dystrophy 6687
                      congenital muscular dystrophy 2162
                        muscular dystrophy-dystroglycanopathy 931
                          muscular dystrophy-dystroglycanopathy type B 201
                            muscular dystrophy-dystroglycanopathy type B6 130
paths to the root