|
G
|
Capn3
|
calpain 3
|
|
ISO
|
ClinVar Annotator: match by term: Congenital muscular dystrophy
|
ClinVar |
PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15221789 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16372320 PMID:16411092 PMID:16650086 PMID:17157502 PMID:17318636 PMID:17702496 PMID:20301490 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:27259757 PMID:28492532 PMID:28881388 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31066050 PMID:31263448 PMID:31517061 PMID:31788660 More...
|
|
NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:127,861,589...127,911,638
|
|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISS
|
OMIM:254100
|
MouseDO |
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
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 PMID:29260090 PMID:29382405 More...
|
|
NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:58,848,621...59,181,406
|
|
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 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 PMID:33587123 PMID:34504686 PMID:36054293 PMID:36553464 PMID:39825153 More...
|
|
NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:85,037,145...85,051,808
|
|
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 1:19,244,599...20,140,056
|
|
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 chr19:11,609,004...12,054,707
|
|
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 PMID:12057196 PMID:12649505 PMID:14675861 PMID:14684700 PMID:15372542 PMID:15744034 PMID:15770669 PMID:16061563 PMID:16364671 PMID:16965317 PMID:18414213 PMID:18564364 PMID:18646565 PMID:19524666 PMID:20980393 PMID:21632249 PMID:22186027 PMID:22883396 PMID:23183350 PMID:24033266 PMID:24375749 PMID:24623722 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26900797 PMID:27532257 PMID:28492532 PMID:32666643 More...
|
|
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
|
|
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 3:57,022,822...57,220,709
|
|
G
|
Pomgnt1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
ISO
|
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
|
ClinVar |
PMID:17878207 PMID:18195152 PMID:18691338 PMID:19067344 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27884173 PMID:28492532 More...
|
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
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 3:35,918,188...35,936,364
|
|
G
|
Pomt2
|
protein-O-mannosyltransferase 2
|
|
ISO
|
ClinVar Annotator: match by term: Congenital muscular dystrophy
|
ClinVar |
|
|
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:112,486,416...112,525,799
|
|
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 3:56,963,854...57,017,106
|
|
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 PMID:22851008 PMID:23329375 PMID:23394784 PMID:24055113 PMID:24195946 PMID:24433488 PMID:25637381 PMID:25735680 PMID:25741868 PMID:26332594 PMID:26467025 PMID:27058611 PMID:27147545 PMID:27153395 PMID:28492532 PMID:30155738 PMID:30236257 PMID:30406384 PMID:30842289 PMID:33646171 PMID:33767344 PMID:34625927 PMID:35428369 PMID:35599849 PMID:36307859 More...
|
|
NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305
|
|
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 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:24033266 PMID:24123366 PMID:25326635 PMID:25333069 PMID:25741868 PMID:26467025 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 PMID:34324503 More...
|
|
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
|
|
|
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 8:117,860,345...117,866,803
|
|
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 8:118,175,267...118,234,284
|
|
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 8:117,958,576...117,963,201
|
|
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 8:118,003,244...118,046,209
|
|
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
|
|
G
|
Dag1
|
dystroglycan 1
|
|
ISO ISS
|
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P | 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 PMID:20234391 PMID:21388311 PMID:22237435 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25614308 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29036200 PMID:29134705 PMID:29337005 PMID:29970176 PMID:30450679 PMID:30838779 PMID:30919572 PMID:31066050 PMID:31097590 PMID:33200426 More...
|
|
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199
|
|
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 8:118,144,197...118,147,822
|
|
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 8:117,905,280...117,906,581
|
|
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 8:117,971,077...118,003,482
|
|
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 8:118,135,262...118,139,873
|
|
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 8:118,020,376...118,025,102
|
|
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 8:118,056,935...118,069,090
|
|
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
|
|
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 8:118,139,892...118,141,723
|
|
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 8:117,854,933...117,860,184
|
|
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 8:118,153,158...118,171,002
|
|
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 8:118,086,228...118,094,274
|
|
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 8:118,095,429...118,134,999
|
|
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 8:117,870,270...117,904,302
|
|
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 8:118,243,519...118,265,027
|
|
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 8:117,867,153...117,871,331
|
|
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 8:118,069,240...118,080,300
|
|
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 8:117,914,614...117,957,949
|
|
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 8:118,146,608...118,153,092
|
|
|
G
|
Col12a1
|
collagen type XII alpha 1 chain
|
|
ISO
|
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy
|
CTD ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:89,427,834...89,545,711
|
|
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 PMID:9724608 PMID:10419498 PMID:11707460 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18366090 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20302629 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25741868 PMID:25749816 PMID:26467025 PMID:26566670 PMID:26867126 PMID:27363342 PMID:27418678 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28492532 PMID:29419890 PMID:30564623 PMID:32154989 PMID:34008892 PMID:34167565 PMID:39825153 More...
|
|
NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107
|
|
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 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23326386 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29172004 PMID:29406609 PMID:29419890 PMID:30467950 PMID:30564623 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31862442 PMID:32053901 PMID:32528171 PMID:33567613 PMID:34167565 PMID:37091313 PMID:37569848 More...
|
|
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
|
|
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 PMID:16141002 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:20301676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25380242 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26566670 PMID:26872670 PMID:27708273 PMID:27854218 PMID:27884173 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30467950 PMID:30487145 PMID:30564623 PMID:30687093 PMID:30706156 PMID:31066050 PMID:31230720 PMID:31265121 PMID:31731261 PMID:31862442 PMID:32343762 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:33879512 PMID:33964895 PMID:35239206 PMID:35487415 PMID:35846108 PMID:36498898 PMID:36982625 PMID:37091313 PMID:39021299 More...
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
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 PMID:20976770 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237
|
|
|
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 9:98,246,605...98,260,214
|
|
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 9:97,487,406...97,922,870
|
|
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 9:101,122,793...101,132,745
|
|
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 9:100,871,373...100,924,229
|
|
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 9:101,364,842...101,394,173
|
|
G
|
Aqp12a
|
aquaporin 12A
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:101,001,939...101,007,425
|
|
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 9:99,567,867...99,583,907
|
|
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 9:90,531,350...90,595,953
Ensembl chr 9:97,979,264...98,043,540
|
|
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 9:101,726,782...101,761,622
|
|
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 9:101,670,625...101,681,833
|
|
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 9:100,945,551...100,957,912
|
|
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:17,857,260...18,011,844
|
|
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 8:89,427,834...89,545,711
|
|
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 PMID:8218237 PMID:8268929 PMID:8730294 PMID:8782832 PMID:9536098 PMID:9580662 PMID:9724608 PMID:10329467 PMID:10419498 PMID:11707460 PMID:11865138 PMID:11932968 PMID:12840783 PMID:15563506 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:16278855 PMID:16935502 PMID:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301468 PMID:20301676 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23738969 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25204870 PMID:25535305 PMID:25635128 PMID:25640679 PMID:25741868 PMID:25749816 PMID:25978941 PMID:26436962 PMID:26467025 PMID:26566670 PMID:26867126 PMID:27363342 PMID:27418678 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28771251 PMID:28831785 PMID:28877744 PMID:28984114 PMID:29382405 PMID:29406609 PMID:29417091 PMID:29419890 PMID:29465610 PMID:30564623 PMID:30706156 PMID:30895940 PMID:31130284 PMID:31273343 PMID:31589614 PMID:32065942 PMID:32154989 PMID:32389683 PMID:32403337 PMID:32528171 PMID:33250842 PMID:33726816 PMID:34008892 PMID:34167565 PMID:35533453 PMID:37010288 PMID:38155714 PMID:39825153 PMID:8782832 More...
|
RGD:1600934 |
NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107
|
|
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:75955 PMID:1788629 PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 PMID:9334230 PMID:9536098 PMID:11381124 PMID:11865138 PMID:12218063 PMID:12840783 PMID:15563506 PMID:15689448 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:18852439 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:21520333 PMID:22075033 PMID:22992134 PMID:23040494 PMID:23170014 PMID:23326386 PMID:23757202 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24134684 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25211533 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25640679 PMID:25741868 PMID:25741909 PMID:26467025 PMID:26752647 PMID:27159402 PMID:27363342 PMID:27421963 PMID:27447704 PMID:27453230 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28600779 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29406609 PMID:29419890 PMID:30467950 PMID:30564623 PMID:30755392 PMID:30963254 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31471117 PMID:31862442 PMID:32053901 PMID:32065942 PMID:32337335 PMID:32403337 PMID:32419263 PMID:32528171 PMID:32860008 PMID:33146414 PMID:33250842 PMID:33481221 PMID:33537799 PMID:33567613 PMID:34167565 PMID:34440373 PMID:35387801 PMID:36575883 PMID:36703223 PMID:36982625 PMID:37091313 PMID:37526466 PMID:37569848 PMID:8782832 More...
|
RGD:1600934 |
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
|
|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISO
|
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:3352914 PMID:3564626 PMID:7695699 PMID:8218237 PMID:8817344 PMID:9536084 PMID:9536098 PMID:9724608 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16141002 PMID:16199547 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22995991 PMID:23040494 PMID:23175733 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24332716 PMID:24518369 PMID:24907562 PMID:25211533 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25635128 PMID:25741868 PMID:25987458 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:26566670 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29172004 PMID:29406609 PMID:29419890 PMID:29894794 PMID:29970176 PMID:30467950 PMID:30564623 PMID:30687093 PMID:30706156 PMID:31044083 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31230720 PMID:31265121 PMID:31345219 PMID:31731261 PMID:31862442 PMID:32037012 PMID:32065942 PMID:32154576 PMID:32343762 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:33879512 PMID:33964895 PMID:34167565 PMID:34418069 PMID:34440373 PMID:35239206 PMID:35487415 PMID:35723357 PMID:35846108 PMID:36498898 PMID:36703223 PMID:36982625 PMID:37023487 PMID:37091313 PMID:37366078 PMID:38374194 PMID:39021299 PMID:39825153 More...
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
G
|
Cops8
|
COP9 signalosome subunit 8
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:98,654,870...98,665,381
|
|
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 9:100,657,276...100,662,206
|
|
G
|
D2hgdh
|
D-2-hydroxyglutarate dehydrogenase
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:94,350,555...94,368,384
Ensembl chr 9:101,797,895...101,815,727
|
|
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 9:101,762,899...101,774,504
|
|
G
|
Dusp28
|
dual specificity phosphatase 28
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:93,472,832...93,474,207
Ensembl chr 9:100,920,249...100,921,624
|
|
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 9:99,404,514...99,412,383
|
|
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 9:99,359,578...99,384,342
|
|
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 9:94,053,650...94,161,982
Ensembl chr 9:101,501,102...101,609,086
|
|
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 PMID:20976770 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29419890 More...
|
|
NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,054,711...12,068,237
|
|
G
|
Gal3st2
|
galactose-3-O-sulfotransferase 2
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:94,382,456...94,387,990
Ensembl chr 9:101,823,815...101,836,507
|
|
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 9:97,957,304...97,959,883
|
|
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 9:100,843,645...100,879,933
|
|
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 9:100,962,538...100,986,985
|
|
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 9:99,955,116...100,197,637
|
|
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 9:101,397,305...101,465,379
|
|
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 9:99,449,371...99,451,096
|
|
G
|
Ilkap
|
ILK associated serine/threonine phosphatase
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:91,966,440...91,988,791
Ensembl chr 9:99,413,978...99,436,418
|
|
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 9:101,773,724...101,793,728
|
|
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 9:90,626,735...90,742,563
Ensembl chr 9:98,073,887...98,190,066
|
|
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 9:101,010,447...101,094,777
|
|
G
|
Klhl30
|
kelch-like family member 30
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:91,942,475...91,952,756
Ensembl chr 9:99,390,014...99,400,295
|
|
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 2:176,237,564...176,288,072
|
|
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 9:99,039,614...99,167,779
|
|
G
|
Mab21l4
|
mab-21 like 4
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:101,138,408...101,147,915
|
|
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 9:98,955,141...98,990,556
|
|
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 9:101,281,543...101,286,259
|
|
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 9:100,437,379...100,489,264
|
|
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 9:101,844,261...101,849,917
|
|
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 9:100,495,938...100,496,876
|
|
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 9:100,664,380...100,665,898
|
|
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 9:101,291,676...101,332,504
|
|
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 9:101,866,126...101,879,270
|
|
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 9:99,454,830...99,496,993
|
|
G
|
Ppp1r7
|
protein phosphatase 1, regulatory subunit 7
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1A
|
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:93,886,068...93,911,198
Ensembl chr 9:101,333,497...101,360,959
|
|
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 9:98,994,163...98,996,515
|
|
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 9:99,001,045...99,014,032
|
|
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
|
|
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 9:99,178,741...99,204,338
|
|
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 9:100,923,856...100,933,485
|
|
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 9:99,327,873...99,358,487
|
|
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 9:101,465,650...101,498,759
|
|
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 9:93,774,087...93,834,003
Ensembl chr 9:101,221,530...101,281,401
|
|
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 9:101,609,221...101,621,359
|
|
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 9:101,689,936...101,729,441
|
|
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 9:99,521,179...99,557,963
|
|
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 9:99,818,962...99,920,270
|
|
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 9:99,293,515...99,330,479
|
|
|
G
|
Col6a2
|
collagen type VI alpha 2 chain
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 1B
|
OMIM ClinVar |
PMID:75955 PMID:7695699 PMID:8218237 PMID:8782832 PMID:9334230 PMID:11865138 PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:19344236 PMID:19884007 PMID:19949035 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:23170014 PMID:24038877 PMID:24271325 PMID:25535305 PMID:25741868 PMID:27159402 PMID:28492532 PMID:29419890 PMID:30467950 PMID:30564623 PMID:31127727 PMID:31471117 PMID:32419263 PMID:32528171 PMID:33567613 PMID:37091313 More...
|
|
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
|
|
|
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 PMID:20976770 PMID:25741868 PMID:26004199 PMID:26247046 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30564623 PMID:30706156 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:35239206 More...
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
|
G
|
Col12a1
|
collagen type XII alpha 1 chain
|
|
ISO
|
ClinVar Annotator: match by term: Bethlem myopathy 2
|
OMIM ClinVar |
PMID:7642694 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27348394 PMID:27975164 PMID:28306225 PMID:28492532 PMID:28973083 PMID:29858556 PMID:31273343 PMID:31509352 PMID:32629534 PMID:35019233 PMID:36936682 PMID:37079061 PMID:37353357 PMID:38174471 PMID:39825153 More...
|
|
NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:89,427,834...89,545,711
|
|
|
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 2:146,313,279...146,324,525
|
|
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 PMID:26689913 PMID:27067391 PMID:27854218 PMID:28051113 PMID:28135145 PMID:28492532 PMID:28843361 PMID:29752822 PMID:32365829 PMID:32986223 PMID:33128190 PMID:33280026 PMID:33436325 PMID:33471991 PMID:33606809 PMID:34326862 PMID:35264596 PMID:35534704 PMID:35957908 PMID:37436117 More...
|
|
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:62,727,291...62,828,629
|
|
G
|
Bche
|
butyrylcholinesterase
|
|
ISO
|
|
RGD |
PMID:12383920 |
RGD:5688132 |
NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760
|
|
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 PMID:26689913 PMID:27067391 PMID:27854218 PMID:28051113 PMID:28135145 PMID:28492532 PMID:28843361 PMID:29752822 PMID:32365829 PMID:32986223 PMID:33128190 PMID:33280026 PMID:33436325 PMID:33471991 PMID:33606809 PMID:34326862 PMID:35264596 PMID:35534704 PMID:35957908 PMID:37436117 More...
|
|
NCBI chr 8:62,692,123...62,720,951
Ensembl chr 8:62,692,568...62,720,946
|
|
G
|
Flna
|
filamin A
|
|
ISO
|
ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A
|
ClinVar |
PMID:25326637 PMID:28492532 |
|
NCBI chr X:157,159,051...157,185,559
Ensembl chr X:157,159,051...157,182,343
|
|
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 9:115,139,548...115,264,251
|
|
G
|
Lama2
|
laminin subunit alpha 2
|
treatment
|
ISO ISS
|
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Congenital merosin-deficient muscular dystrophy 1A | 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 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 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 OMIM:607855 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD RGD |
PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9536098 PMID:9541105 PMID:9674786 PMID:9829280 PMID:10022829 PMID:10611118 PMID:10619025 PMID:10694916 PMID:10747011 PMID:10852549 PMID:11071490 PMID:11287370 PMID:11369186 PMID:11591858 PMID:11938437 PMID:11992261 PMID:12100448 PMID:12552556 PMID:12601554 PMID:15121796 PMID:16199547 PMID:16216942 PMID:16770791 PMID:17576681 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19294599 PMID:19388593 PMID:19763152 PMID:20207543 PMID:20307669 PMID:21520333 PMID:21896784 PMID:21922472 PMID:21953594 PMID:22166137 PMID:22406018 PMID:22426012 PMID:22675738 PMID:23326386 PMID:23757202 PMID:23911319 PMID:24033266 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24534542 PMID:24611677 PMID:24957499 PMID:25124546 PMID:25214167 PMID:25326637 PMID:25332755 PMID:25525159 PMID:25640679 PMID:25663498 PMID:25741868 PMID:25741915 PMID:25741916 PMID:26104111 PMID:26304763 PMID:26436962 PMID:26467025 PMID:26607181 PMID:26633542 PMID:26962340 PMID:27159402 PMID:27234031 PMID:27353517 PMID:27357428 PMID:27447704 PMID:27708273 PMID:27854218 PMID:27858741 PMID:27858771 PMID:27896284 PMID:27932089 PMID:28182637 PMID:28445022 PMID:28492532 PMID:28554332 PMID:28569743 PMID:28688748 PMID:28877744 PMID:29172004 PMID:29212164 PMID:29376585 PMID:29382405 PMID:29465610 PMID:29493581 PMID:29706646 PMID:29707938 PMID:29773157 PMID:29961767 PMID:30055037 PMID:30091983 PMID:30147969 PMID:30293248 PMID:30301903 PMID:30373198 PMID:30827497 PMID:31040037 PMID:31066047 PMID:31066050 PMID:31069529 PMID:31130284 PMID:31309178 PMID:31395899 PMID:31404137 PMID:31694722 PMID:31983221 PMID:32154989 PMID:32266982 PMID:32337335 PMID:32444167 PMID:32509318 PMID:32528171 PMID:32827036 PMID:32860008 PMID:32904964 PMID:32910545 PMID:32936536 PMID:33057194 PMID:33077954 PMID:33124102 PMID:33219631 PMID:33250842 PMID:33304817 PMID:33442022 PMID:33762593 PMID:33963534 PMID:34103343 PMID:34281576 PMID:34528292 PMID:34559299 PMID:34602496 PMID:34702656 PMID:34777456 PMID:34925456 PMID:35628876 PMID:35710456 PMID:35734998 PMID:35885997 PMID:35902733 PMID:35982159 PMID:36380532 PMID:36413997 PMID:36703223 PMID:36860576 PMID:37038535 PMID:37182895 PMID:37206914 PMID:37404563 PMID:37415604 PMID:37526466 PMID:38703036 PMID:38747280 PMID:38962616 PMID:38975466 PMID:39213089 PMID:28714989 More...
|
RGD:13605609 |
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056
|
|
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 PMID:26681312 PMID:28492532 PMID:28973705 PMID:29875428 PMID:29979965 PMID:30224644 More...
|
|
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299
|
|
|
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 6:58,848,621...59,181,406
|
|
G
|
Itga7
|
integrin subunit alpha 7
|
|
ISO ISS
|
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 OMIM:613204 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:31785789 PMID:34552617 PMID:36444867 PMID:9354797 More...
|
RGD:13601979 |
NCBI chr 7:1,944,447...1,973,347
Ensembl chr 7:1,944,460...1,973,339
|
|
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 7:1,973,337...1,975,980
|
|
|
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:2007407 PMID:2270059 PMID:2338570 PMID:2733290 PMID:2753225 PMID:4740717 PMID:8619549 PMID:9106535 PMID:9500556 PMID:9536098 PMID:10080180 PMID:10580070 PMID:10587585 PMID:10655060 PMID:10739751 PMID:10739764 PMID:10810087 PMID:10814726 PMID:10868844 PMID:10939567 PMID:10999791 PMID:10999845 PMID:11078466 PMID:11102973 PMID:11136544 PMID:11180602 PMID:11231979 PMID:11344241 PMID:11503164 PMID:11561226 PMID:11731280 PMID:11792809 PMID:11799477 PMID:11897440 PMID:12032588 PMID:12057196 PMID:12075506 PMID:12376891 PMID:12467734 PMID:12467752 PMID:12524233 PMID:12628721 PMID:12629077 PMID:12647844 PMID:12649505 PMID:12669268 PMID:12673789 PMID:12702809 PMID:12716787 PMID:12768443 PMID:12788894 PMID:12920062 PMID:12927424 PMID:12927431 PMID:12938084 PMID:13129702 PMID:14510863 PMID:14597414 PMID:14607793 PMID:14615128 PMID:14627682 PMID:14659775 PMID:14684700 PMID:14749366 PMID:14985400 PMID:15053843 PMID:15060110 PMID:15140538 PMID:15148145 PMID:15219508 PMID:15298354 PMID:15372542 PMID:15473259 PMID:15475483 PMID:15531479 PMID:15539782 PMID:15622532 PMID:15678000 PMID:15744034 PMID:15770669 PMID:15832002 PMID:15843404 PMID:15919811 PMID:15961312 PMID:15965218 PMID:15998779 PMID:16046620 PMID:16174718 PMID:16181372 PMID:16199547 PMID:16278265 PMID:16364671 PMID:16386954 PMID:16407522 PMID:16415042 PMID:16459536 PMID:16478798 PMID:16584978 PMID:16585054 PMID:16671095 PMID:16705075 PMID:16715312 PMID:16809772 PMID:16990647 PMID:17107595 PMID:17136397 PMID:17250669 PMID:17250699 PMID:17274801 PMID:17325275 PMID:17334235 PMID:17347251 PMID:17377071 PMID:17524034 PMID:17536044 PMID:17576681 PMID:17612587 PMID:17711925 PMID:17760566 PMID:17848409 PMID:17881656 PMID:17893350 PMID:17967828 PMID:17987279 PMID:18035086 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18478590 PMID:18549403 PMID:18551513 PMID:18551515 PMID:18564364 PMID:18585512 PMID:18604166 PMID:18606848 PMID:18646565 PMID:18728124 PMID:18795223 PMID:18796515 PMID:18808171 PMID:18926329 PMID:19011997 PMID:19070492 PMID:19084400 PMID:19201734 PMID:19204888 PMID:19220582 PMID:19249234 PMID:19318026 PMID:19418082 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19446900 PMID:19524666 PMID:19574635 PMID:19589617 PMID:19622949 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19842191 PMID:19859838 PMID:19875404 PMID:19875478 PMID:20074070 PMID:20130076 PMID:20160190 PMID:20301609 PMID:20301717 PMID:20307303 PMID:20376791 PMID:20497714 PMID:20576434 PMID:20625965 PMID:20627339 PMID:20662858 PMID:20848652 PMID:20886652 PMID:20980393 PMID:21173262 PMID:21270786 PMID:21400569 PMID:21479595 PMID:21483645 PMID:21520333 PMID:21535365 PMID:21632249 PMID:21653823 PMID:21831885 PMID:21840938 PMID:21846512 PMID:21945321 PMID:21980471 PMID:21989830 PMID:22068161 PMID:22071332 PMID:22090424 PMID:22177269 PMID:22199124 PMID:22224630 PMID:22266370 PMID:22276265 PMID:22326558 PMID:22331516 PMID:22355414 PMID:22431096 PMID:22464770 PMID:22491857 PMID:22526018 PMID:22570643 PMID:22700598 PMID:22761994 PMID:22883396 PMID:22918509 PMID:23062543 PMID:23142632 PMID:23183350 PMID:23217256 PMID:23299917 PMID:23313286 PMID:23328570 PMID:23349452 PMID:23360689 PMID:23427149 PMID:23497705 PMID:23582089 PMID:23702046 PMID:23783098 PMID:23785128 PMID:23804595 PMID:23846499 PMID:23853504 PMID:23861362 PMID:23977161 PMID:23990565 PMID:24001739 PMID:24002959 PMID:24024053 PMID:24033266 PMID:24055113 PMID:24058181 PMID:24080738 PMID:24108105 PMID:24375749 PMID:24459210 PMID:24503780 PMID:24508248 PMID:24623722 PMID:24642510 PMID:24656463 PMID:24721642 PMID:24768879 PMID:24794538 PMID:24806962 PMID:24846508 PMID:24861648 PMID:24915601 PMID:24943589 PMID:24990833 PMID:25025039 PMID:25163546 PMID:25210889 PMID:25214167 PMID:25274841 PMID:25286833 PMID:25324471 PMID:25326635 PMID:25343322 PMID:25351510 PMID:25371241 PMID:25448463 PMID:25524705 PMID:25525159 PMID:25617006 PMID:25635128 PMID:25637381 PMID:25741868 PMID:25793944 PMID:25823658 PMID:25873806 PMID:25885670 PMID:25948554 PMID:25982065 PMID:25987458 PMID:26027246 PMID:26084686 PMID:26098624 PMID:26165385 PMID:26183555 PMID:26220970 PMID:26332594 PMID:26383259 PMID:26383716 PMID:26392352 PMID:26404900 PMID:26443318 PMID:26467025 PMID:26498160 PMID:26573435 PMID:26575312 PMID:26602028 PMID:26662654 PMID:26688388 PMID:26724531 PMID:26733286 PMID:26743238 PMID:26752647 PMID:26756202 PMID:26867126 PMID:26899768 PMID:26900797 PMID:26976018 PMID:27000522 PMID:27153395 PMID:27182706 PMID:27199538 PMID:27220833 PMID:27332903 PMID:27363342 PMID:27374873 PMID:27421120 PMID:27447704 PMID:27498076 PMID:27504462 PMID:27506821 PMID:27529282 PMID:27532257 PMID:27585670 PMID:27600705 PMID:27633507 PMID:27650965 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27841971 PMID:27845687 PMID:27854218 PMID:27876398 PMID:27884249 PMID:27896052 PMID:27896284 PMID:27919367 PMID:27981572 PMID:28074886 PMID:28082330 PMID:28087566 PMID:28125586 PMID:28255936 PMID:28341588 PMID:28349240 PMID:28416588 PMID:28492532 PMID:28518168 PMID:28531892 PMID:28620495 PMID:28641778 PMID:28663758 PMID:28679633 PMID:28688748 PMID:28701371 PMID:28751304 PMID:28759816 PMID:28785654 PMID:28790152 PMID:28807990 PMID:28874324 PMID:28878402 PMID:28987496 PMID:29057633 PMID:29095976 PMID:29121657 PMID:29149195 PMID:29237675 PMID:29237690 PMID:29253866 PMID:29255176 PMID:29431110 PMID:29438482 PMID:29540472 PMID:29551499 PMID:29557732 PMID:29620724 PMID:29669293 PMID:29693488 PMID:29709087 PMID:29773157 PMID:29791652 PMID:29892087 PMID:29893365 PMID:29895224 PMID:29943882 PMID:29952368 PMID:29961767 PMID:29970176 PMID:30007954 PMID:30012837 PMID:30055862 PMID:30107846 PMID:30122538 PMID:30137533 PMID:30165155 PMID:30165862 PMID:30177912 PMID:30287275 PMID:30326651 PMID:30340945 PMID:30402260 PMID:30405424 PMID:30418556 PMID:30420677 PMID:30429050 PMID:30488537 PMID:30528549 PMID:30564623 PMID:30595509 PMID:30615648 PMID:30665423 PMID:30739589 PMID:30765282 PMID:30847666 PMID:30871747 PMID:30919684 PMID:31019283 PMID:31127727 PMID:31194872 PMID:31303467 PMID:31383942 PMID:31410651 PMID:31428229 PMID:31434876 PMID:31447099 PMID:31475473 PMID:31476771 PMID:31498906 PMID:31514951 PMID:31521807 PMID:31525256 PMID:31744510 PMID:31794942 PMID:31829210 PMID:31836692 PMID:31857427 PMID:31931689 PMID:31977013 PMID:31980526 PMID:31983221 PMID:32004434 PMID:32009526 PMID:32012908 PMID:32041611 PMID:32193531 PMID:32231000 PMID:32244403 PMID:32376792 PMID:32413188 PMID:32455078 PMID:32455813 PMID:32456328 PMID:32461654 PMID:32508047 PMID:32517491 PMID:32528171 PMID:32571898 PMID:32616434 PMID:32685188 PMID:32698523 PMID:32727917 PMID:32746448 PMID:32789750 PMID:32792077 PMID:32793522 PMID:32818388 PMID:32826072 PMID:32880476 PMID:32913962 PMID:32939435 PMID:33038109 PMID:33070394 PMID:33142761 PMID:33258288 PMID:33304817 PMID:33336002 PMID:33396724 PMID:33407844 PMID:33422685 PMID:33458588 PMID:33500567 PMID:33502018 PMID:33661429 PMID:33673806 PMID:33713793 PMID:33803191 PMID:33803652 PMID:33824984 PMID:33887581 PMID:33893211 PMID:33916827 PMID:33940562 PMID:33963534 PMID:34008892 PMID:34011823 PMID:34135346 PMID:34240052 PMID:34340952 PMID:34363016 PMID:34495297 PMID:34638534 PMID:34680903 PMID:34720847 PMID:34768595 PMID:34788595 PMID:34808346 PMID:34862408 PMID:34865644 PMID:34872044 PMID:34935411 PMID:34954454 PMID:34975533 PMID:34999423 PMID:35026164 PMID:35239206 PMID:35284542 PMID:35291351 PMID:35384599 PMID:35387801 PMID:35434999 PMID:35449878 PMID:35526016 PMID:35533453 PMID:35535697 PMID:35653365 PMID:35772917 PMID:35898701 PMID:36253810 PMID:36264615 PMID:36267857 PMID:36282542 PMID:36293084 PMID:36299226 PMID:36325899 PMID:36352512 PMID:36389384 PMID:36397776 PMID:36646731 PMID:36704457 PMID:36788754 PMID:36971006 PMID:36975868 PMID:37035729 PMID:37198425 PMID:37246508 PMID:37349538 PMID:37589201 PMID:37624850 PMID:37639473 PMID:37652022 PMID:37679847 PMID:37685926 PMID:37904629 PMID:38048861 PMID:38247853 PMID:38254962 PMID:38374194 PMID:38473809 PMID:38489124 PMID:38630155 PMID:38689299 PMID:38691546 PMID:38757491 PMID:38979608 PMID:24508248 More...
|
RGD:12791283 |
NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072
|
|
|
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 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18700894 PMID:20207543 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28569743 PMID:28688748 PMID:29706646 PMID:29961767 PMID:30055037 PMID:30091983 PMID:30301903 PMID:30827497 PMID:31066047 PMID:31395899 PMID:31983221 PMID:32154989 PMID:32266982 PMID:32337335 PMID:32904964 PMID:33442022 PMID:33762593 PMID:34281576 PMID:34528292 PMID:34925456 PMID:35710456 PMID:35902733 PMID:36413997 More...
|
|
NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056
|
|
|
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 chr10:60,973,950...60,995,046
|
|
|
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 1:86,595,180...86,627,257
|
|
G
|
Fktn
|
fukutin
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement
|
ClinVar |
PMID:9 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:15833426 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:27671536 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29101272 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30775854 PMID:30975432 PMID:31534214 PMID:31742715 PMID:31983221 PMID:32721234 PMID:33200426 PMID:34008892 PMID:35026164 PMID:35131284 PMID:35587316 PMID:35743126 PMID:35843586 PMID:37227348 PMID:37834164 More...
|
|
NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181
|
|
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 chr10:52,384,908...52,409,047
|
|
|
G
|
Bet1
|
Bet1 golgi vesicular membrane trafficking protein
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with rapid progression
|
ClinVar OMIM |
PMID:25741868 PMID:34779586 |
|
NCBI chr 4:33,070,892...33,081,162
Ensembl chr 4:33,070,891...33,081,164
|
|
|
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 PMID:31794073 PMID:35372177 More...
|
|
NCBI chr 8:75,248,352...75,334,802
Ensembl chr 8:75,248,361...75,335,055
|
|
|
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 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26908613 PMID:26990548 PMID:27391550 PMID:27604308 PMID:28492532 PMID:30961548 PMID:31589614 PMID:31980526 PMID:33144682 More...
|
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
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 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:19299310 PMID:20816175 PMID:21447391 PMID:22323514 PMID:23326386 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26908613 PMID:26990548 PMID:27391550 PMID:27604308 PMID:28492532 PMID:30961548 PMID:31589614 PMID:31980526 PMID:33144682 More...
|
|
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
|
|
|
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 1:211,772,606...211,775,442
|
|
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 8:117,769,517...117,782,199
|
|
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 7:114,946,982...115,058,574
|
|
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 PMID:12707425 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16717227 PMID:16786213 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18832576 PMID:19299310 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20675713 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22264518 PMID:22451200 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27711214 PMID:27848944 PMID:27884173 PMID:28112097 PMID:28479227 PMID:28482373 PMID:28492532 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32403337 PMID:32429923 PMID:32746448 PMID:32914449 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34653404 PMID:34935411 PMID:35239206 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 More...
|
|
NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257
|
|
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:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19266496 PMID:19342235 PMID:20620061 PMID:20961758 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:26467025 PMID:26809617 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:30975432 PMID:31983221 PMID:35131284 More...
|
|
NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181
|
|
G
|
Kcnq1
|
potassium voltage-gated channel subfamily Q member 1
|
|
ISO
|
ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia
|
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 PMID:19716085 PMID:19841300 PMID:20301308 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28438721 PMID:28492532 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
|
|
NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
|
|
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 chr19:11,609,004...12,054,707
|
|
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 PMID:14678799 PMID:15037715 PMID:15522202 PMID:15637732 PMID:15733261 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16698797 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:20065251 PMID:20816175 PMID:22323514 PMID:22499106 PMID:22522420 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:27884173 PMID:28097321 PMID:28116189 PMID:28157257 PMID:28182637 PMID:28492532 PMID:28556411 PMID:29101272 PMID:30060766 PMID:30426380 PMID:30564623 PMID:31311558 PMID:31319225 PMID:31862442 PMID:32528171 PMID:32860008 PMID:33200426 PMID:34925456 PMID:34930662 PMID:35046417 PMID:35606784 More...
|
|
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364
|
|
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:17869517 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:22323514 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:29382405 PMID:30091983 PMID:32494558 PMID:34413876 More...
|
|
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:112,486,416...112,525,799
|
|
|
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 1:86,595,180...86,627,257
|
|
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 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27733679 PMID:28492532 PMID:30017359 PMID:31742715 PMID:34490615 PMID:36344539 More...
|
|
NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:59,656,276...59,668,050
|
|
|
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 PMID:25326635 PMID:25326637 PMID:25640679 PMID:25741868 PMID:26663670 PMID:28492532 PMID:29273094 PMID:29302074 PMID:29791932 PMID:31130284 PMID:31428121 PMID:33200426 PMID:33290285 PMID:34906519 PMID:35338537 PMID:38649797 More...
|
|
NCBI chr17:56,030,409...56,072,952
Ensembl chr17:56,030,409...56,072,952
|
|
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 chr17:55,985,707...56,032,302
|
|
|
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 chr16:72,767,627...72,788,229
|
|
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 chr16:72,807,849...72,840,176
|
|
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 chr16:72,657,019...72,764,071
|
|
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 PMID:25741868 PMID:27879205 PMID:28492532 PMID:29910097 PMID:30060766 PMID:32907597 More...
|
|
NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103
|
|
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 chr16:72,631,638...72,656,469
|
|
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 chr16:72,607,305...72,612,690
|
|
|
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 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 1:211,772,644...211,774,866
Ensembl chr 1:211,772,606...211,775,442
|
|
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 1:211,615,533...211,633,468
|
|
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 1:202,345,766...202,355,028
Ensembl chr 1:211,775,095...211,784,410
|
|
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 1:211,634,068...211,658,310
|
|
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 1:211,693,804...211,697,177
|
|
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 1:211,711,338...211,716,102
|
|
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 1:211,661,610...211,672,239
|
|
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 1:211,784,943...211,791,368
|
|
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 1:211,757,000...211,764,560
|
|
|
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 PMID:23894383 PMID:24033266 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:26467025 PMID:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30126629 PMID:30257713 PMID:30684953 PMID:31211170 PMID:31980526 PMID:32056211 PMID:32115343 PMID:32403337 PMID:32404165 PMID:33756069 PMID:34008892 PMID:34106991 PMID:34333724 PMID:35006422 PMID:37853563 More...
|
|
NCBI chr 8:117,616,029...117,622,866
|
|
|
G
|
Pomt2
|
protein-O-mannosyltransferase 2
|
|
ISO
|
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 PMID:17576681 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22700954 PMID:22958903 PMID:24002165 PMID:24033266 PMID:24183756 PMID:25214167 PMID:25267602 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26495167 PMID:26886200 PMID:27447704 PMID:27457812 PMID:27854218 PMID:27894351 PMID:28492532 PMID:28688748 PMID:28973083 PMID:28980384 PMID:29175898 PMID:29382405 PMID:29759639 PMID:30060766 PMID:30091983 PMID:31127727 PMID:31980526 PMID:32140910 PMID:32494558 PMID:32528171 PMID:33124102 PMID:33176815 PMID:33200426 PMID:34413876 PMID:35628876 PMID:36048137 PMID:36797079 More...
|
|
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:112,486,416...112,525,799
|
|
|
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:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:34426522 PMID:35846108 PMID:36819107 PMID:36964972 More...
|
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
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: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
|
ClinVar |
PMID:3123072 PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33200426 PMID:34324503 PMID:34426522 PMID:35846108 PMID:36819107 PMID:36964972 More...
|
|
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
|
|
|
G
|
Fkrp
|
fukutin related protein
|
|
ISO
|
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 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
|
OMIM ClinVar |
PMID:6368217 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16288869 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16717227 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19556129 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20675713 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21970816 PMID:22264518 PMID:22451200 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28482373 PMID:28492532 PMID:28569743 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30107846 PMID:30232282 PMID:30293248 PMID:30417025 PMID:30564623 PMID:30816495 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32403337 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:32914449 PMID:33077954 PMID:33200426 PMID:34008892 PMID:34379075 PMID:34509255 PMID:34602496 PMID:34653404 PMID:34935411 PMID:35239206 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 More...
|
|
NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257
|
|
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 1:86,610,210...86,639,955
|
|
|
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 PMID:19299310 PMID:22426012 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29970176 PMID:38229655 More...
|
|
NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707
|
|
|
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 6:58,615,243...58,657,685
|
|
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 6:58,554,961...58,615,912
|
|
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 PMID:10738921 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22522420 PMID:22522421 PMID:23217329 PMID:23288328 PMID:23390185 PMID:24033266 PMID:24120487 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26404900 PMID:26467025 PMID:27234031 PMID:27363342 PMID:28492532 PMID:28688748 PMID:28973083 PMID:29260090 PMID:29382405 PMID:30564623 PMID:31127727 PMID:31395954 PMID:31909476 PMID:32502767 PMID:33199158 PMID:34485198 More...
|
|
NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:58,848,621...59,181,406
|
|
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 6:58,661,874...58,722,933
|
|
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 6:58,778,623...58,782,866
|
|
|
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 8:130,877,703...130,903,947
|
|
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 8:130,384,559...130,464,393
|
|
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 8:130,718,755...130,877,636
|
|
G
|
Ccdc13
|
coiled-coil domain containing 13
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,455,202...121,507,487
Ensembl chr 8:130,335,204...130,377,096
|
|
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 8:130,031,013...130,037,686
|
|
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 8:129,517,545...129,544,662
|
|
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 8:130,442,503...130,457,689
|
|
G
|
Gask1a
|
golgi associated kinase 1A
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,610,779...121,643,742
Ensembl chr 8:130,488,354...130,521,242
|
|
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 8:130,324,510...130,331,509
|
|
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 8:130,391,661...130,400,888
|
|
G
|
Klhl40
|
kelch-like family member 40
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,441,285...121,446,801
Ensembl chr 8:130,318,794...130,326,299
|
|
G
|
Krbox1
|
KRAB box domain containing 1
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,597,254...121,604,048
|
|
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 8:130,125,642...130,138,700
|
|
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 8:130,259,461...130,298,008
|
|
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 PMID:27066570 PMID:28492532 PMID:31130284 PMID:32570172 PMID:35131284 PMID:35229910 PMID:35533453 PMID:37432431 More...
|
|
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:130,521,459...130,571,943
|
|
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 8:130,223,349...130,247,852
|
|
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 8:130,657,266...130,711,457
|
|
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 8:130,252,782...130,257,367
|
|
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 8:129,861,977...130,016,870
|
|
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 8:129,548,431...129,843,501
|
|
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 8:130,187,731...130,217,096
|
|
G
|
Zbtb47
|
zinc finger and BTB domain containing 47
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
|
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,420,758...121,434,365
Ensembl chr 8:130,301,300...130,310,732
|
|
|
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 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9
|
OMIM ClinVar |
PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 PMID:29970176 PMID:30838779 More...
|
|
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:117,769,517...117,782,199
|
|
|
G
|
Agrn
|
agrin
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539
|
|
G
|
Dok7
|
docking protein 7
|
|
ISO ISS
|
ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 OMIM:254300 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18567858 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25741868 PMID:25849006 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:30266093 PMID:31589614 PMID:31618753 PMID:31880392 PMID:32153140 PMID:32360404 PMID:32403337 PMID:33146414 PMID:33820833 PMID:34027146 PMID:34418069 PMID:34682862 PMID:36579833 PMID:37273706 PMID:37721175 PMID:37849383 PMID:38278647 PMID:38725677 PMID:39825153 More...
|
|
NCBI chr14:79,890,051...79,924,081
Ensembl chr14:79,891,367...79,932,252
|
|
|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISO
|
ClinVar Annotator: match by term: Dystonia 27
|
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536098 PMID:15689448 PMID:17576681 PMID:18378883 PMID:18414213 PMID:19344236 PMID:20301676 PMID:20976770 PMID:20981092 PMID:23572247 PMID:24038877 PMID:25380242 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27854218 PMID:28492532 PMID:28688748 PMID:29970176 PMID:30564623 PMID:30687093 PMID:30706156 PMID:31265121 PMID:31345219 PMID:31862442 PMID:32065942 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:33964895 PMID:35239206 PMID:36498898 PMID:39825153 More...
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
|
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 8:117,769,517...117,782,199
|
|
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 1:86,595,180...86,627,257
|
|
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:9 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:15833426 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:27671536 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29101272 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30775854 PMID:30975432 PMID:31534214 PMID:31742715 PMID:31983221 PMID:32721234 PMID:33200426 PMID:34008892 PMID:35026164 PMID:35131284 PMID:35587316 PMID:35743126 PMID:35843586 PMID:37227348 PMID:37834164 PMID:11445638 More...
|
RGD:11537476 |
NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181
|
|
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 chr10:52,384,908...52,409,047
|
|
|
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 7:122,272,808...122,274,594
|
|
G
|
Chkb
|
choline kinase beta
|
|
ISO ISS
|
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy OMIM:602541 CTD Direct Evidence: marker/mechanism
|
OMIM ClinVar MouseDO CTD |
PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25740612 PMID:25741868 PMID:26006750 PMID:26467025 PMID:26548592 PMID:26782016 PMID:28492532 PMID:31926838 PMID:33712684 More...
|
|
NCBI chr 7:122,380,592...122,385,102
Ensembl chr 7:122,380,594...122,383,949
|
|
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 7:122,323,860...122,326,876
|
|
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 7:122,370,444...122,380,036
|
|
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 7:122,331,708...122,335,364
|
|
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 7:122,297,973...122,302,423
|
|
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 7:122,284,660...122,287,157
|
|
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 7:122,300,252...122,319,569
|
|
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 PMID:28492532 PMID:29943458 More...
|
|
NCBI chr 1:96,673,624...96,818,197
Ensembl chr 1:96,673,607...96,818,190
|
|
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 7:122,237,968...122,264,531
|
|
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 7:122,336,427...122,344,820
|
|
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 7:122,316,520...122,324,003
|
|
|
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 PMID:24458321 PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28982678 PMID:29855340 PMID:31440721 PMID:31980526 PMID:33639315 PMID:34167170 PMID:34426522 PMID:37895210 More...
|
|
NCBI chr10:89,085,323...89,105,665
Ensembl chr10:89,086,331...89,105,637
|
|
|
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 chr17:56,030,409...56,072,952
|
|
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 6:58,848,621...59,181,406
|
|
G
|
Fkrp
|
fukutin related protein
|
|
ISO
|
ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
|
ClinVar |
PMID:10838249 PMID:11741828 PMID:12666124 PMID:12707439 PMID:14647208 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16634037 PMID:16786213 PMID:17554798 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18671187 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30232282 PMID:30564623 PMID:30919934 PMID:31268217 PMID:32342672 PMID:32419263 PMID:32914449 PMID:34008892 PMID:34653404 More...
|
|
NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257
|
|
G
|
Fktn
|
fukutin
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
|
ClinVar |
PMID:17559086 PMID:17878207 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
|
|
NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181
|
|
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 PMID:28492532 PMID:29437916 PMID:30257713 PMID:30684953 PMID:32403337 PMID:32404165 PMID:26310427 More...
|
RGD:11530903 |
NCBI chr 8:117,616,029...117,622,866
|
|
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 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22819665 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24282183 PMID:24731844 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29096039 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31069529 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:34426522 PMID:36964972 More...
|
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
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 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22819665 PMID:23326386 PMID:23453855 PMID:23689641 PMID:23894383 PMID:24282183 PMID:24731844 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29096039 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31069529 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:34426522 PMID:36964972 More...
|
|
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
|
|
|
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 1:211,772,606...211,775,442
|
|
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 1:86,595,180...86,627,257
|
|
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 5:73,135,361...73,189,181
|
|
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 chr19:11,609,004...12,054,707
|
|
G
|
Pomgnt1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
ISS
|
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094
|
MouseDO |
|
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
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 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:23894383 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28815891 PMID:29101272 PMID:30060766 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32528171 PMID:32860008 PMID:33200426 PMID:34015165 PMID:34930662 PMID:35046417 PMID:35606784 More...
|
|
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364
|
|
|
G
|
Gmppb
|
GDP-mannose pyrophosphorylase B
|
|
ISO
|
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED | 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 PMID:24780531 PMID:25326637 PMID:25681410 PMID:25741868 PMID:25770200 PMID:26133662 PMID:26310427 PMID:27147698 PMID:27766311 PMID:27874200 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:29437916 PMID:30257713 PMID:30684953 PMID:31980526 PMID:32115343 PMID:32403337 PMID:32404165 PMID:34008892 PMID:34106991 PMID:34333724 PMID:35006422 PMID:37853563 More...
|
|
NCBI chr 8:117,616,029...117,622,866
|
|
|
G
|
Dpm3
|
dolichyl-phosphate mannosyltransferase subunit 3, regulatory
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15
|
OMIM ClinVar |
PMID:31469168 |
|
NCBI chr 2:174,676,532...174,677,047
Ensembl chr15:52,612,418...52,612,696
|
|
|
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 PMID:17634419 PMID:17869517 PMID:17878207 PMID:17878297 PMID:18513969 PMID:19138766 PMID:19299310 PMID:22700954 PMID:24002165 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:34413876 More...
|
|
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:112,486,416...112,525,799
|
|
|
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 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31069529 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:33144682 PMID:34324503 PMID:34426522 More...
|
|
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
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 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31069529 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:33144682 PMID:34324503 PMID:34426522 More...
|
|
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
|
|
|
G
|
Fktn
|
fukutin
|
|
ISO
|
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
|
OMIM ClinVar |
PMID:9 PMID:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19396839 PMID:20620061 PMID:20961758 PMID:21520333 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:29101272 PMID:29447731 PMID:29590070 PMID:30060766 PMID:30975432 PMID:31534214 PMID:31983221 PMID:34008892 PMID:35026164 PMID:35131284 PMID:35743126 PMID:37227348 PMID:37834164 More...
|
|
NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181
|
|
|
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 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16717227 PMID:16786213 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19244252 PMID:19299310 PMID:19556129 PMID:19705481 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20675713 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:22264518 PMID:22451200 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28482373 PMID:28492532 PMID:28569743 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30107846 PMID:30232282 PMID:30417025 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32351701 PMID:32403337 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:32914449 PMID:33077954 PMID:33200426 PMID:33513091 PMID:34008892 PMID:34379075 PMID:34509255 PMID:34653404 PMID:34935411 PMID:35239206 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 PMID:14652796 More...
|
RGD:1358626 |
NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257
|
|
|
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 7:19,736,474...19,793,634
|
|
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 chr14:81,956,777...82,087,246
|
|
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 7:19,696,961...19,725,180
|
|
G
|
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 PMID:17576681 PMID:17878207 PMID:18414213 PMID:19067344 PMID:21727005 PMID:22426012 PMID:24709677 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27159402 PMID:28454995 PMID:28492532 PMID:28556411 PMID:29970176 PMID:34426522 PMID:38229655 PMID:12966029 More...
|
RGD:1358756 |
NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707
|
|
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 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
G
|
Rtcb
|
RNA 2',3'-cyclic phosphate and 5'-OH ligase
|
|
ISO
|
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6
|
ClinVar |
PMID:28492532 |
|
NCBI chr 7:17,907,668...17,927,136
Ensembl chr 7:19,795,393...19,814,875
|
|
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 chr14:81,778,348...81,846,624
|
|
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 chr20:12,475,096...12,527,506
|
|
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 7:19,264,094...19,696,510
|
|
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 7:19,409,631...19,459,547
|
|
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 5:134,883,706...134,888,730
|
|
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 chr14:81,920,590...81,947,930
|
|
|
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 PMID:30060766 More...
|
|
NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103
|
|
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 PMID:28116189 PMID:28492532 PMID:31311558 More...
|
|
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364
|
|
|
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 8:121,645,106...121,660,761
Ensembl chr 8:130,521,459...130,571,943
|
|
|
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 chr19:68,781,168...68,786,178
|
|
G
|
Elac2
|
elaC ribonuclease Z 2
|
|
ISO
|
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 3 WITH RIGID SPINE
|
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr10:50,131,449...50,154,755
Ensembl chr10:50,131,521...50,155,069
|
|
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 2:53,382,643...53,399,802
|
|
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 5:152,229,505...152,262,290
|
|
G
|
Man1c1
|
mannosidase, alpha, class 1C, member 1
|
|
ISO
|
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
|
ClinVar |
PMID:21131290 PMID:21670436 PMID:28492532 |
|
NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:152,057,967...152,197,138
|
|
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 PMID:22473935 PMID:23394784 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24950660 PMID:24951453 PMID:25214167 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28259615 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31206373 PMID:31517061 PMID:31680349 PMID:32236737 PMID:33333461 PMID:34008892 PMID:35428369 PMID:36628841 More...
|
|
NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305
|
|
G
|
Selenon
|
selenoprotein N
|
|
ISO ISS
|
DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human) 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 OMIM:602771 CTD Direct Evidence: marker/mechanism
|
ClinVar MouseDO CTD OMIM RGD |
PMID:1219264 PMID:7224095 PMID:9536098 PMID:9585610 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16199547 PMID:16365872 PMID:16498447 PMID:16779558 PMID:17204937 PMID:17365175 PMID:17576681 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:19285539 PMID:19557870 PMID:19763152 PMID:20301436 PMID:20307669 PMID:20623375 PMID:20937510 PMID:21131290 PMID:21520333 PMID:21670436 PMID:22406018 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25525159 PMID:25635128 PMID:25640679 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:27863379 PMID:28357410 PMID:28492532 PMID:28558865 PMID:28688748 PMID:29172004 PMID:29382405 PMID:29669168 PMID:30612914 PMID:30642275 PMID:30921636 PMID:30932294 PMID:31127727 PMID:31321302 PMID:31561939 PMID:31847883 PMID:32140910 PMID:32154989 PMID:32528171 PMID:32746448 PMID:32796131 PMID:32860008 PMID:32864802 PMID:33037864 PMID:33184643 PMID:33333461 PMID:33652732 PMID:33762497 PMID:34602496 PMID:34867752 PMID:35368679 PMID:35606766 PMID:11528383 More...
|
RGD:1599352 |
NCBI chr 5:152,032,330...152,046,707
Ensembl chr 5:152,032,330...152,046,707
|
|
|
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 8:89,427,834...89,545,711
|
|
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 PMID:15955946 PMID:16199547 PMID:17576681 PMID:18366090 PMID:19344236 PMID:19884007 PMID:20302629 PMID:20576434 PMID:20976770 PMID:21280092 PMID:22075033 PMID:24038877 PMID:25204870 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26436962 PMID:26467025 PMID:27854213 PMID:27854218 PMID:28492532 PMID:28771251 PMID:30564623 PMID:32065942 PMID:32403337 PMID:32528171 PMID:38155714 More...
|
|
NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107
|
|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISS
|
OMIM:254090
|
MouseDO |
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
|
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 8:89,427,834...89,545,711
|
|
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 PMID:15689448 PMID:16088929 PMID:16130093 PMID:16935502 PMID:17015493 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20302629 PMID:20576434 PMID:20882040 PMID:20976770 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23572247 PMID:24038877 PMID:24223098 PMID:24801232 PMID:24959844 PMID:25741868 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:28182637 PMID:28424332 PMID:28492532 PMID:30895940 PMID:32154989 PMID:34008892 PMID:34167565 PMID:39825153 More...
|
|
NCBI chr20:11,905,690...11,924,111
Ensembl chr20:11,905,457...11,924,107
|
|
G
|
Col6a2
|
collagen type VI alpha 2 chain
|
|
ISO
|
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
|
ClinVar |
PMID:7695699 PMID:8218237 PMID:15689448 PMID:16199547 PMID:18366090 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20976770 PMID:21280092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27159402 PMID:27447704 PMID:27854218 PMID:28492532 PMID:29419890 PMID:30564623 PMID:31127727 PMID:32528171 PMID:32860008 PMID:33481221 PMID:33537799 PMID:33567613 PMID:34167565 PMID:36703223 PMID:37091313 PMID:37526466 More...
|
|
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
|
|
G
|
Col6a3
|
collagen type VI alpha 3 chain
|
|
ISO
|
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
|
ClinVar |
PMID:3564626 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16199547 PMID:17576681 PMID:18366090 PMID:18378883 PMID:18414213 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20976770 PMID:20981092 PMID:21280092 PMID:23040494 PMID:23572247 PMID:24038877 PMID:24271325 PMID:24518369 PMID:25326635 PMID:25380242 PMID:25635128 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26436962 PMID:26467025 PMID:28492532 PMID:28688748 PMID:29419890 PMID:29970176 PMID:30564623 PMID:30706156 PMID:31345219 PMID:31862442 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33596003 PMID:33749658 PMID:34167565 PMID:34720847 PMID:35239206 PMID:35723357 PMID:36498898 PMID:37091313 More...
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
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 chr20:12,054,711...12,068,237
|
|
|
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 PMID:15563506 PMID:15689448 PMID:16075202 PMID:16935502 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22075033 PMID:23326386 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27159402 PMID:27447704 PMID:28492532 PMID:29419890 PMID:30564623 PMID:31069529 PMID:33567613 PMID:34167565 PMID:37091313 PMID:37526466 PMID:37569848 PMID:39103709 More...
|
|
NCBI chr20:12,021,182...12,048,932
Ensembl chr20:12,021,265...12,057,042
|
|
|
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 PMID:18366090 PMID:19564581 PMID:20301676 PMID:20976770 PMID:21280092 PMID:24271325 PMID:24518369 PMID:25326635 PMID:25741868 PMID:26004199 PMID:28492532 PMID:29419890 PMID:35723357 PMID:37366078 More...
|
|
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:98,809,171...98,886,990
|
|
|
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 PMID:10612821 PMID:16199547 PMID:17576681 PMID:19344236 PMID:24334604 PMID:24334769 PMID:25640679 PMID:25741868 PMID:26362251 PMID:27159402 PMID:27348394 PMID:27975164 PMID:28306225 PMID:28492532 PMID:28769055 PMID:28973083 PMID:29342313 PMID:29858556 PMID:30907627 PMID:31127727 PMID:31273343 PMID:31395899 PMID:31509352 PMID:32214361 PMID:32629534 PMID:33057194 PMID:33129849 PMID:33146414 PMID:35903967 PMID:35982159 PMID:36421793 PMID:36936682 PMID:37079061 PMID:37353357 PMID:37458870 PMID:38174471 PMID:39825153 PMID:224334604 More...
|
|
NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:89,427,834...89,545,711
|
|
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 chr14:55,514,261...55,514,512 Ensembl chr 8:55,514,261...55,514,512
|
|
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 8:89,644,579...89,802,771
|
|
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 8:90,123,821...90,269,903
|
|
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 8:89,967,377...90,122,215
|
|
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 8:89,868,867...89,948,062
|
|
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 8:89,608,975...89,633,291
|
|
|
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 5:72,473,676...72,596,473
|
|
G
|
Aqp4
|
aquaporin 4
|
|
ISO
|
|
RGD |
PMID:20680099 |
RGD:5148028 |
NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098
|
|
G
|
B3galnt2
|
beta-1,3-N-acetylgalactosaminyltransferase 2
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr17:56,030,409...56,072,952
Ensembl chr17:56,030,409...56,072,952
|
|
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 1:211,772,606...211,775,442
|
|
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 1:86,717,321...86,725,960
|
|
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 7:118,867,450...119,004,856
|
|
G
|
Col4a1
|
collagen type IV alpha 1 chain
|
|
ISS
|
OMIM:236670 | OMIM:253280
|
MouseDO |
|
|
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482
|
|
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 6:58,848,621...59,181,406
|
|
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 1:86,674,734...86,687,421
|
|
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 8:117,769,517...117,782,199
|
|
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:12,152,346...12,165,983
|
|
G
|
Fkrp
|
fukutin related protein
|
|
ISO
|
DNA:missense mutation:exon:p.M1V (c.1A>G) (human) ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | 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 SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | 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: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome 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
|
ClinVar CTD RGD |
PMID:1464708 PMID:6368217 PMID:10838249 PMID:11053680 PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707425 PMID:12707439 PMID:14523375 PMID:14647208 PMID:14652796 PMID:14742276 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833426 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16143867 PMID:16288869 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16717227 PMID:16786213 PMID:17055682 PMID:17113772 PMID:17336067 PMID:17351538 PMID:17446099 PMID:17554798 PMID:17559086 PMID:17952692 PMID:17994539 PMID:18036232 PMID:18060779 PMID:18160674 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18645206 PMID:18671187 PMID:18691338 PMID:18752264 PMID:18832576 PMID:19155270 PMID:19244252 PMID:19299310 PMID:19556129 PMID:19705481 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20236121 PMID:20623375 PMID:20675713 PMID:20961758 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21270786 PMID:21293871 PMID:21296577 PMID:21816046 PMID:21886772 PMID:21970816 PMID:22264518 PMID:22451200 PMID:22981120 PMID:22983245 PMID:22995991 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24139536 PMID:24257234 PMID:24447024 PMID:24556424 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25976249 PMID:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26986070 PMID:26990548 PMID:27142102 PMID:27166760 PMID:27302555 PMID:27363342 PMID:27439679 PMID:27627455 PMID:27671536 PMID:27711214 PMID:27848944 PMID:27854218 PMID:27884173 PMID:27981572 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28482373 PMID:28492532 PMID:28569743 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:29101272 PMID:29382405 PMID:29858056 PMID:30003095 PMID:30060766 PMID:30107846 PMID:30210031 PMID:30232282 PMID:30293248 PMID:30417025 PMID:30564623 PMID:30816495 PMID:30919934 PMID:31041397 PMID:31069529 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:31931849 PMID:32115343 PMID:32342672 PMID:32351701 PMID:32403337 PMID:32419263 PMID:32429923 PMID:32576226 PMID:32746448 PMID:32864802 PMID:32914449 PMID:33051673 PMID:33077954 PMID:33146414 PMID:33200426 PMID:33250842 PMID:33513091 PMID:34008892 PMID:34379075 PMID:34440373 PMID:34509255 PMID:34602496 PMID:34653404 PMID:34935411 PMID:35239206 PMID:35741838 PMID:36522254 PMID:37154180 PMID:37526466 PMID:37688281 PMID:38374194 PMID:39326416 PMID:20236121 More...
|
RGD:11667969 |
NCBI chr 1:86,607,769...86,615,045
Ensembl chr 1:86,595,180...86,627,257
|
|
G
|
Fktn
|
fukutin
|
|
ISO
|
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation, nonsense mutation, insertions: :multiple DNA:insertion:exon:c.1167insA (human)
|
ClinVar CTD RGD |
PMID:9 PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15833426 PMID:16199547 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17576681 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:18834683 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21191726 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22522420 PMID:22958903 PMID:23582336 PMID:23746544 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26350204 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27332903 PMID:27357428 PMID:27521547 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:29101272 PMID:29447731 PMID:29590070 PMID:29907797 PMID:30060766 PMID:30775854 PMID:30975432 PMID:31534214 PMID:31742715 PMID:31756055 PMID:31862442 PMID:31983221 PMID:32721234 PMID:32746448 PMID:32969603 PMID:33048919 PMID:33200426 PMID:34008892 PMID:34120883 PMID:35026164 PMID:35131284 PMID:35175440 PMID:35352813 PMID:35587316 PMID:35743126 PMID:35843586 PMID:37227348 PMID:37834164 PMID:9690476 PMID:24824861 PMID:10545611 PMID:19266496 More...
|
RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 |
NCBI chr 5:73,134,746...73,191,772
Ensembl chr 5:73,135,361...73,189,181
|
|
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 5:73,054,274...73,130,292
|
|
G
|
Gmppb
|
GDP-mannose pyrophosphorylase B
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr 8:117,616,029...117,622,866
|
|
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 1:86,692,642...86,696,408
|
|
G
|
Kcnq1
|
potassium voltage-gated channel subfamily Q member 1
|
|
ISO
|
ClinVar Annotator: match by term: Pagon syndrome
|
ClinVar |
PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19632626 PMID:19716085 PMID:19841300 PMID:20301308 PMID:22581653 PMID:22949429 PMID:23392653 PMID:24033266 PMID:24947509 PMID:25741868 PMID:25854863 PMID:26546361 PMID:27831900 PMID:28438721 PMID:28492532 PMID:31447099 PMID:32893267 PMID:34135346 PMID:34404389 PMID:34798354 PMID:35352813 PMID:36102233 More...
|
|
NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072
|
|
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 chr19:11,609,004...12,054,707
|
|
G
|
Pomgnt1
|
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
|
|
ISO ISS
|
DNA:missense mutations, nonsense mutation: :multiple ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy 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 CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human) DNA:missense mutations, splice-site mutations, deletions: :multiple DNA:deletions, splice-site mutation:exon, intron:multiple
|
ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:34426522 PMID:35846108 PMID:23689641 PMID:15236414 PMID:11709191 PMID:22554691 More...
|
RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 |
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:134,870,975...134,880,863
|
|
G
|
Pomgnt2
|
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD RGD |
PMID:26060116 |
RGD:11532770 |
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:130,521,459...130,571,943
|
|
G
|
Pomk
|
protein-O-mannose kinase
|
|
ISO
|
CTD Direct Evidence: marker/mechanism
|
CTD |
|
|
NCBI chr16:72,788,842...72,801,122
Ensembl chr16:72,794,831...72,801,103
|
|
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 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16199547 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:20816175 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26245304 PMID:26467025 PMID:27066551 PMID:27159402 PMID:27193224 PMID:28097321 PMID:28116189 PMID:28492532 PMID:28815891 PMID:29101272 PMID:30060766 PMID:30426380 PMID:31311558 PMID:31680349 PMID:32528171 PMID:32860008 PMID:33200426 PMID:34930662 PMID:35046417 PMID:35606784 PMID:12369018 PMID:15637732 PMID:16575835 More...
|
RGD:731235, RGD:11073321, RGD:11532686 |
NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364
|
|
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 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:15894594 More...
|
RGD:11532761 |
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:112,486,416...112,525,799
|
|
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 1:86,642,629...86,670,675
|
|
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 1:86,707,503...86,711,874
|
|
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 PMID:28492532 More...
|
|
NCBI chr 7:59,656,274...59,668,140
Ensembl chr 7:59,656,276...59,668,050
|
|
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 5:72,858,759...73,037,279
|
|
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 1:86,610,210...86,639,955
|
|
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 PMID:19266496 PMID:27065010 PMID:28492532 More...
|
|
NCBI chr 5:73,206,372...73,212,929
Ensembl chr 5:73,198,142...73,214,674
|
|
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 PMID:19266496 PMID:27065010 PMID:28492532 More...
|
|
NCBI chr 5:73,255,662...73,291,383
Ensembl chr 5:73,255,632...73,292,384
|
|
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 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 |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17154333 PMID:17559086 PMID:17576681 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:18691338 PMID:19067344 PMID:19299310 PMID:19679478 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:21983716 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23326386 PMID:23453855 PMID:23689641 PMID:24033266 PMID:24123366 PMID:24282183 PMID:24731844 PMID:24733390 PMID:25326635 PMID:25333069 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:26990548 PMID:27391550 PMID:27493216 PMID:27604308 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:29555514 PMID:30937090 PMID:30961548 PMID:31066047 PMID:31230720 PMID:31589614 PMID:31964843 PMID:31980526 PMID:32404165 PMID:33144682 PMID:33175337 PMID:33200426 PMID:34324503 PMID:34426522 PMID:35846108 More...
|
|
NCBI chr 5:134,883,704...134,896,083
Ensembl chr 5:134,883,706...134,888,730
|
|