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G |
Capn3 |
calpain 3 |
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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:17318636 PMID:17702496 PMID:20635405 PMID:21204801 PMID:21984748 PMID:25135358 PMID:25741868 PMID:26404900 PMID:26467025 PMID:26484845 PMID:27142102 PMID:28492532 PMID:28914264 PMID:30028523 PMID:30919934 PMID:31263448 PMID:31517061 PMID:31788660 More...
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NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISS |
OMIM:254100 |
MouseDO |
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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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...
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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G |
Fkbp14 |
FKBP prolyl isomerase 14 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:22265013 PMID:24677762 PMID:25741868 PMID:27149304 PMID:27905128 PMID:28492532 PMID:28617417 PMID:30561154 PMID:31063316 PMID:31132235 More...
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NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
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G |
Lama2 |
laminin subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
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NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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G |
Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related |
ClinVar |
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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G |
Lmna |
lamin A/C |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:15770669 PMID:25741868 PMID:26467025 PMID:26900797 PMID:28492532 |
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NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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G |
Neb |
nebulin |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
|
ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related |
ClinVar |
PMID:9536098 PMID:15466003 PMID:17576681 PMID:17878207 PMID:17906881 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...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Pomt2 |
protein-O-mannosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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G |
Rif1 |
replication timing regulatory factor 1 |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:36,554,689...36,607,961
Ensembl chr 3:36,554,697...36,603,617
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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: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 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Tspan1 |
tetraspanin 1 |
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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...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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G |
Ttn |
titin |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis |
ClinVar |
PMID:22526018 PMID:24195946 PMID:25741868 PMID:28492532 PMID:30611313 PMID:31559918 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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G |
Amt |
aminomethyltransferase |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
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G |
Ccdc71 |
coiled-coil domain containing 71 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
OMIM ClinVar |
PMID:9536098 PMID:14678799 PMID:15367484 PMID:17576681 PMID:21388311 PMID:24033266 PMID:24052401 PMID:25503980 PMID:25671699 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29036200 PMID:29134705 PMID:29337005 PMID:31097590 More...
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Iho1 |
interactor of HORMAD1 1 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
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G |
Klhdc8b |
kelch domain containing 8B |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
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G |
Lamb2 |
laminin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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G |
LOC498675 |
hypothetical LOC498675 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
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G |
LOC680045 |
hypothetical protein LOC680045 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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G |
Nicn1 |
nicolin 1, tubulin polyglutamylase complex subunit |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
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G |
Rhoa |
ras homolog family member A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
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G |
Tcta |
T-cell leukemia translocation altered |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
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G |
Usp4 |
ubiquitin specific peptidase 4 |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P |
ClinVar |
PMID:15367484 PMID:28492532 |
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NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Col6a1 |
collagen type VI alpha 1 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscular dystrophy, benign congenital | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures |
CTD ClinVar |
PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 PMID:9724608 PMID:10419498 PMID:11707460 PMID:12840783 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:17015493 PMID:17576681 PMID:17886299 PMID:18366090 PMID:18414213 PMID:18825676 PMID:19204719 PMID:19344236 PMID:20301676 PMID:20302629 PMID:20976770 PMID:20981092 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:25741868 PMID:25749816 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27708273 PMID:27854213 PMID:27884173 PMID:28182637 PMID:28492532 PMID:29419890 PMID:30564623 More...
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 PMID:31127727 PMID:34167565 More...
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
CTD ClinVar |
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30487145 PMID:30564623 PMID:30687093 PMID:30755392 PMID:31265121 PMID:31731261 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33964895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Ackr3 |
atypical chemokine receptor 3 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:26004199 PMID:28492532 |
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NCBI chr 9:90,799,682...90,811,246
Ensembl chr 9:90,799,686...90,811,237
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G |
Clcn5 |
chloride voltage-gated channel 5 |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:14673707 PMID:25741868 PMID:28492532 |
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NCBI chr X:15,185,353...15,339,977
Ensembl chr X:15,185,451...15,334,264
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G |
Col6a1 |
collagen type VI alpha 1 chain |
susceptibility |
ISO |
Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human) ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar OMIM RGD |
PMID:7551830 PMID:7695699 PMID:7881296 PMID:8218237 PMID:8268929 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:17015493 PMID:17576681 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18366090 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:21735565 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23326386 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:24271325 PMID:24801232 PMID:24959844 PMID:25204870 PMID:25535305 PMID:25640679 PMID:25741868 PMID:25749816 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27246988 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:27884173 PMID:28182637 PMID:28424332 PMID:28492532 PMID:28877744 PMID:28984114 PMID:29417091 PMID:29419890 PMID:30564623 PMID:30706156 PMID:30895940 PMID:31130284 PMID:32065942 PMID:32403337 PMID:32528171 PMID:34008892 PMID:34167565 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
susceptibility |
ISO |
Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human) ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar OMIM RGD |
PMID:4793163 PMID:7695699 PMID:7785673 PMID:8218237 PMID:8782832 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: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:21280092 PMID:22992134 PMID:23040494 PMID:23170014 PMID:23326386 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25204870 PMID:25326637 PMID:25380242 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27363342 PMID:27447704 PMID:27453230 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28600779 PMID:28660205 PMID:28688748 PMID:28831785 PMID:29406609 PMID:29419890 PMID:30564623 PMID:31066050 PMID:31127727 PMID:31965297 PMID:32065942 PMID:32403337 PMID:32528171 PMID:32860008 PMID:34167565 PMID:8782832 More...
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RGD:1600934 |
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9536084 PMID:9536098 PMID:11992252 PMID:15563506 PMID:15689448 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:24332716 PMID:24518369 PMID:25211533 PMID:25214167 PMID:25224718 PMID:25326635 PMID:25380242 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26752647 PMID:26872670 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28097933 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29419890 PMID:29970176 PMID:30467950 PMID:30564623 PMID:30687093 PMID:30755392 PMID:31265121 PMID:32037012 PMID:32065942 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33964895 More...
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|
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Cops8 |
COP9 signalosome subunit 8 |
|
ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:26004199 PMID:28492532 |
|
NCBI chr 9:91,207,427...91,217,258
Ensembl chr 9:91,207,395...91,217,258
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Bethlem myopathy 1 |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Bethlem myopathy 2 |
OMIM ClinVar |
PMID:24334604 PMID:24334769 PMID:25741868 PMID:28492532 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy |
ClinVar |
PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9536098 PMID:11707460 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:17015493 PMID:17576681 PMID:18378883 PMID:18414213 PMID:19344236 PMID:20302629 PMID:20976770 PMID:20981092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24223098 PMID:25741868 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27854213 PMID:27884173 PMID:28492532 PMID:28831785 PMID:30564623 PMID:32389683 More...
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy |
ClinVar |
PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 PMID:16935502 PMID:17576681 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:19309692 PMID:19564581 PMID:19884007 PMID:19949035 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22992134 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25533456 PMID:25535305 PMID:25635128 PMID:25741868 PMID:26467025 PMID:26752647 PMID:27447704 PMID:27456059 PMID:27782108 PMID:27854218 PMID:28492532 PMID:28660205 PMID:29419890 PMID:30564623 PMID:31127727 PMID:34167565 More...
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy |
ClinVar |
PMID:9536098 PMID:15563506 PMID:15689448 PMID:16935502 PMID:17576681 PMID:17785673 PMID:17886299 PMID:18378883 PMID:18414213 PMID:18825676 PMID:20976770 PMID:20981092 PMID:22995991 PMID:23040494 PMID:23572247 PMID:23757202 PMID:24033266 PMID:24038877 PMID:24332716 PMID:25214167 PMID:25224718 PMID:25741868 PMID:26004199 PMID:26247046 PMID:26284228 PMID:26467025 PMID:26872670 PMID:27708273 PMID:27854218 PMID:28492532 PMID:28562329 PMID:28688748 PMID:29970176 PMID:30564623 PMID:30687093 PMID:31265121 PMID:32403337 PMID:32448721 PMID:32528171 PMID:33964895 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Ftcd |
formimidoyltransferase cyclodeaminase |
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ISO |
ClinVar Annotator: match by term: Collagen VI-related myopathy |
ClinVar |
PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Bche |
butyrylcholinesterase |
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ISO |
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RGD |
PMID:12383920 |
RGD:5688132 |
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Lama2 |
laminin subunit alpha 2 |
treatment |
ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related | ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy | ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy |
OMIM ClinVar RGD |
PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9536098 PMID:9541105 PMID:9674786 PMID:9829280 PMID:10022829 PMID:10611118 PMID:10619025 PMID:10694916 PMID:10747011 PMID:10852549 PMID:11071490 PMID:11287370 PMID:11369186 PMID:11591858 PMID:11938437 PMID:12100448 PMID:12552556 PMID:12601554 PMID:16199547 PMID:16216942 PMID:16770791 PMID:17576681 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19294599 PMID:19388593 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21922472 PMID:21953594 PMID:22166137 PMID:22426012 PMID:22675738 PMID:23326386 PMID:23757202 PMID:23911319 PMID:24033266 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24534542 PMID:24611677 PMID:24957499 PMID:25124546 PMID:25214167 PMID:25326637 PMID:25332755 PMID:25525159 PMID:25640679 PMID:25663498 PMID:25741868 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:28182637 PMID:28445022 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:29212164 PMID:29376585 PMID:29465610 PMID:29706646 PMID:29707938 PMID:29773157 PMID:30055037 PMID:30147969 PMID:30301903 PMID:30373198 PMID:30827497 PMID:30900984 PMID:31130284 PMID:31983221 PMID:32154989 PMID:32266982 PMID:32827036 PMID:32860008 PMID:32904964 PMID:28714989 More...
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RGD:13605609 |
NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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Crppa |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency |
ClinVar |
PMID:25741868 |
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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Itga7 |
integrin subunit alpha 7 |
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ISO |
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related | ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency |
OMIM ClinVar RGD |
PMID:9536098 PMID:9590299 PMID:12057917 PMID:16199547 PMID:17576681 PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 PMID:31785789 PMID:9354797 More...
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RGD:13601979 |
NCBI chr 7:1,360,125...1,388,886
Ensembl chr 7:1,359,940...1,388,450
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Mettl7b |
methyltransferase like 7B |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr 7:1,388,876...1,391,526
Ensembl chr 7:1,388,879...1,391,526
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Lmna |
lamin A/C |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human) |
OMIM ClinVar RGD |
PMID:2338570 PMID:9536098 PMID:10580070 PMID:10655060 PMID:10939567 PMID:11503164 PMID:11561226 PMID:11792809 PMID:12057196 PMID:12629077 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:15140538 PMID:15148145 PMID:15475483 PMID:15622532 PMID:15961312 PMID:15998779 PMID:16174718 PMID:16440304 PMID:17274801 PMID:17377071 PMID:17576681 PMID:17881656 PMID:18414213 PMID:18549403 PMID:18551513 PMID:18585512 PMID:18606848 PMID:18795223 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19589617 PMID:19638735 PMID:19680556 PMID:20160190 PMID:20848652 PMID:20886652 PMID:21535365 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22491857 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23427149 PMID:23582089 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24375749 PMID:24503780 PMID:24508248 PMID:24623722 PMID:24721642 PMID:24768879 PMID:24806962 PMID:24846508 PMID:25214167 PMID:25326635 PMID:25637381 PMID:25741868 PMID:26098624 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27374873 PMID:27506821 PMID:27532257 PMID:27585670 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27876398 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29791652 PMID:30055862 PMID:30165862 PMID:30528549 PMID:30847666 PMID:30871747 PMID:31303467 PMID:31829210 PMID:31857427 PMID:32376792 PMID:32571898 PMID:34008892 PMID:24508248 More...
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RGD:12791283 |
NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
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Lama2 |
laminin subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency |
ClinVar |
PMID:8957020 PMID:9158149 PMID:9541105 PMID:9674786 PMID:10611118 PMID:10852549 PMID:11071490 PMID:12100448 PMID:12552556 PMID:18414213 PMID:18700894 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21953594 PMID:22166137 PMID:22426012 PMID:23326386 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24611677 PMID:24957499 PMID:25525159 PMID:25587058 PMID:25741868 PMID:26467025 PMID:26607181 PMID:27159402 PMID:27353517 PMID:27854218 PMID:27896284 PMID:28182637 PMID:28492532 PMID:28688748 PMID:29706646 PMID:30055037 PMID:30301903 PMID:30827497 PMID:32154989 PMID:32266982 PMID:32904964 More...
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NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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Inpp5k |
inositol polyphosphate-5-phosphatase K |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy with cataracts and intellectual disability |
OMIM ClinVar |
PMID:25741868 PMID:28190456 PMID:28190459 PMID:28492532 |
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NCBI chr10:60,474,262...60,495,813
Ensembl chr10:60,475,897...60,496,773
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Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn |
fukutin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement |
ClinVar |
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:30060766 PMID:34008892 More...
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Trip4 |
thyroid hormone receptor interactor 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type |
OMIM ClinVar |
PMID:25741868 PMID:27008887 PMID:28492532 PMID:31794073 |
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NCBI chr 8:66,351,861...66,439,679
Ensembl chr 8:66,353,248...66,439,774
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Gmppb |
GDP-mannose pyrophosphorylase B |
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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:27147698 PMID:27527004 PMID:27766311 PMID:27874200 PMID:28433477 PMID:28456886 PMID:28478914 PMID:28492532 PMID:28554332 PMID:28877744 PMID:28914264 PMID:29437916 PMID:30060766 PMID:30069288 PMID:30257713 PMID:30684953 PMID:31211170 PMID:31980526 PMID:34008892 More...
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Ankmy2 |
ankyrin repeat and MYND domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 6:52,888,963...52,930,341
Ensembl chr 6:52,888,963...52,930,394
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Bzw2 |
basic leucine zipper and W2 domains 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
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Crppa |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
OMIM ClinVar |
PMID:2328832 PMID:7604843 PMID:9492098 PMID:9536098 PMID:10738921 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:26467025 PMID:28492532 PMID:28973083 PMID:29260090 PMID:29382405 More...
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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Lrrc72 |
leucine rich repeat containing 72 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
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G |
Sostdc1 |
sclerostin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 |
ClinVar |
PMID:23288328 PMID:28492532 |
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NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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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:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Tspan1 |
tetraspanin 1 |
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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:25741868 PMID:26013959 PMID:26908613 PMID:27391550 PMID:28492532 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:23877401 PMID:25558065 |
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Fkrp |
fukutin related protein |
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ISS ISO |
OMIM:236670 ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
MouseDO ClinVar |
PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:14647208 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:18036232 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18645206 PMID:19155270 PMID:19244252 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:22264518 PMID:22981120 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25135358 PMID:25560911 PMID:25741868 PMID:25802880 PMID:25987458 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27302555 PMID:27439679 PMID:27671536 PMID:27848944 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28931339 PMID:29065428 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:32746448 PMID:34008892 PMID:34653404 More...
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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G |
Fktn |
fukutin |
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ISS ISO |
OMIM:236670 ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
MouseDO ClinVar |
PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:17034757 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:30060766 PMID:31983221 PMID:32969603 PMID:33048919 PMID:34008892 PMID:34120883 More...
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISS |
OMIM:236670 |
MouseDO |
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
OMIM ClinVar |
PMID:11320179 PMID:12369018 PMID:14678799 PMID:15037715 PMID:15637732 PMID:15792865 PMID:16575835 PMID:17559086 PMID:17878207 PMID:18414213 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19222032 PMID:19299310 PMID:19519795 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25267602 PMID:25326635 PMID:25741868 PMID:25898921 PMID:26245304 PMID:26467025 PMID:27884173 PMID:28492532 PMID:31319225 PMID:32860008 More...
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Pomt2 |
protein-O-mannosyltransferase 2 |
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ISS ISO |
OMIM:236670 ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
MouseDO ClinVar |
PMID:17559086 PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 More...
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Rxylt1 |
ribitol xylosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 |
OMIM ClinVar |
PMID:16199547 PMID:23217329 PMID:23519211 PMID:24033266 PMID:25640679 PMID:25741868 PMID:28492532 PMID:31742715 More...
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NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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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:28492532 PMID:29273094 PMID:29302074 PMID:29791932 PMID:31428121 PMID:33290285 More...
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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G |
Tbce |
tubulin folding cofactor E |
|
ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 |
ClinVar |
PMID:23453667 PMID:28492532 |
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NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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Fnta |
farnesyltransferase, CAAX box, alpha |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
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Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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Hook3 |
hook microtubule-tethering protein 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
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G |
Pomk |
protein-O-mannose kinase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23519211 PMID:24556084 PMID:24925318 PMID:25741868 PMID:27879205 PMID:28492532 PMID:29910097 PMID:30060766 More...
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NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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Rnf170 |
ring finger protein 170 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
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Thap1 |
THAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 |
ClinVar |
PMID:28492532 |
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NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
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G |
B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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G |
Pomt2 |
protein-O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 |
OMIM ClinVar |
PMID:9536098 PMID:15894594 PMID:16199547 PMID:16701995 PMID:17559086 PMID:17576681 PMID:17634419 PMID:17878207 PMID:17878297 PMID:17923109 PMID:18414213 PMID:18513969 PMID:18752264 PMID:19138766 PMID:19299310 PMID:22323514 PMID:22700954 PMID:24002165 PMID:24033266 PMID:25214167 PMID:25267602 PMID:25741868 PMID:26467025 PMID:26495167 PMID:27854218 PMID:27894351 PMID:28492532 PMID:28973083 PMID:29175898 PMID:29382405 PMID:30060766 PMID:30091983 PMID:32528171 PMID:33200426 PMID:34413876 More...
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED |
OMIM ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23894383 PMID:24033266 PMID:24123366 PMID:25333069 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 PMID:15236414 PMID:15466003 PMID:15938569 PMID:16199547 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17576681 PMID:17869517 PMID:17878207 PMID:17906881 PMID:18195152 PMID:18691338 PMID:19067344 PMID:19299310 PMID:20215985 PMID:20816175 PMID:20981092 PMID:21228398 PMID:21361872 PMID:21447391 PMID:21727005 PMID:22323514 PMID:22522420 PMID:22554691 PMID:22995991 PMID:23894383 PMID:24033266 PMID:24123366 PMID:25333069 PMID:25390965 PMID:25741868 PMID:26467025 PMID:26908613 PMID:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:30961548 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
OMIM ClinVar |
PMID:11592034 PMID:11741828 PMID:12471058 PMID:12666124 PMID:12707439 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15121789 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17554798 PMID:17559086 PMID:17952692 PMID:18060779 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18752264 PMID:19155270 PMID:19244252 PMID:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19955119 PMID:20236121 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23800702 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:27439679 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28479227 PMID:28492532 PMID:28931339 PMID:30564623 PMID:30919934 PMID:31268217 PMID:34008892 PMID:34653404 More...
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Strn4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 |
OMIM ClinVar |
PMID:17436019 PMID:17878207 PMID:18414213 PMID:19067344 PMID:19299310 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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Abhd5 |
abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:122,000,241...122,026,447
Ensembl chr 8:122,000,389...122,026,447
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G |
Ackr2 |
atypical chemokine receptor 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,559,563...121,573,633
Ensembl chr 8:121,561,211...121,573,582
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G |
Ano10 |
anoctamin 10 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,841,664...121,960,739
Ensembl chr 8:121,841,665...121,962,670
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Ccdc13 |
coiled-coil domain containing 13 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,455,202...121,507,487
Ensembl chr 8:121,457,697...121,502,337
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G |
Cck |
cholecystokinin |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp8b1 |
cytochrome P450 family 8 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,578,123...121,580,093
Ensembl chr 8:121,557,062...121,580,166
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Gask1a |
golgi associated kinase 1A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,610,779...121,643,742
Ensembl chr 8:121,610,787...121,642,942
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G |
Hhatl |
hedgehog acyltransferase-like |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,447,001...121,454,070
Ensembl chr 8:121,447,002...121,454,001
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Higd1a |
HIG1 hypoxia inducible domain family, member 1A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,514,152...121,523,382
Ensembl chr 8:121,514,156...121,523,443
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G |
Klhl40 |
kelch-like family member 40 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,441,275...121,446,806
Ensembl chr 8:121,441,287...121,446,800
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G |
Krbox1 |
KRAB box domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,597,254...121,604,048
Ensembl chr 8:121,597,319...121,604,027
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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 |
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NCBI chr 8:121,248,129...121,255,372
Ensembl chr 8:121,248,168...121,255,353
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G |
Nktr |
natural killer cell triggering receptor |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,380,010...121,420,495
Ensembl chr 8:121,382,436...121,418,314
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
OMIM ClinVar |
PMID:18414213 PMID:22958903 PMID:25558065 PMID:25741868 PMID:26467025 PMID:27066570 PMID:28492532 PMID:31130284 More...
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NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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Sec22c |
SEC22 homolog C, vesicle trafficking protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,345,839...121,371,509
Ensembl chr 8:121,350,107...121,370,925
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G |
Snrk |
SNF related kinase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,779,704...121,833,949
Ensembl chr 8:121,793,302...121,832,323
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G |
Ss18l2 |
SS18 like 2 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,375,249...121,377,877
Ensembl chr 8:121,375,308...121,377,877
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G |
Trak1 |
trafficking kinesin protein 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
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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 |
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NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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G |
Vipr1 |
vasoactive intestinal peptide receptor 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:121,303,739...121,339,587
Ensembl chr 8:121,310,248...121,339,585
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G |
Zbtb47 |
zinc finger and BTB domain containing 47 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:121,420,758...121,434,365
Ensembl chr 8:121,423,696...121,433,225
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G |
Dag1 |
dystroglycan 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 |
OMIM ClinVar |
PMID:24033266 PMID:24052401 PMID:25741868 PMID:25934851 PMID:26467025 PMID:28492532 PMID:29134705 More...
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NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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Col6a3 |
collagen type VI alpha 3 chain |
|
ISO |
ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: Dystonia 27 |
OMIM ClinVar |
PMID:15689448 PMID:18378883 PMID:18414213 PMID:25741868 PMID:26004199 PMID:26467025 PMID:26872670 PMID:28492532 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Dag1 |
dystroglycan 1 |
|
ISO |
protein:decreased expression:brain, heart, skeletal muscle |
RGD |
PMID:11445638 |
RGD:11537476 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Fkrp |
fukutin related protein |
|
ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 |
ClinVar |
|
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn |
fukutin |
|
ISO |
ClinVar Annotator: match by term: Cerebromuscular dystrophy, Fukuyama type | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg syndrome, FKTN-related |
OMIM ClinVar RGD |
PMID:9690476 PMID:10545611 PMID:11153909 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15103718 PMID:16222679 PMID:17034757 PMID:17036286 PMID:17044012 PMID:17559086 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18414213 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:19842201 PMID:20620061 PMID:20961758 PMID:21102627 PMID:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:30060766 PMID:34008892 PMID:11445638 More...
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RGD:11537476 |
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Adm2 |
adrenomedullin 2 |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,393,219...120,394,965
Ensembl chr 7:120,393,179...120,396,331
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Chkb |
choline kinase beta |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
OMIM ClinVar |
PMID:7767093 PMID:9427222 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21665002 PMID:23692895 PMID:23945283 PMID:24997086 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26782016 PMID:28005197 PMID:28492532 PMID:28902413 More...
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NCBI chr 7:120,500,960...120,504,359
Ensembl chr 7:120,500,984...120,504,461
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Cpt1b |
carnitine palmitoyltransferase 1B |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,491,354...120,500,833
Ensembl chr 7:120,491,354...120,500,404
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Klhdc7b |
kelch domain containing 7B |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,452,081...120,456,094
Ensembl chr 7:120,453,932...120,455,737
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Lmf2 |
lipase maturation factor 2 |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,418,343...120,422,825
Ensembl chr 7:120,418,345...120,422,823
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Miox |
myo-inositol oxygenase |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,405,031...120,407,529
Ensembl chr 7:120,405,031...120,407,537
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Ncaph2 |
non-SMC condensin II complex, subunit H2 |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
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Odf3b |
outer dense fiber of sperm tails 3B |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,444,232...120,447,383
Ensembl chr 7:120,444,232...120,446,749
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Sbf1 |
SET binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,358,338...120,385,022
Ensembl chr 7:120,358,338...120,384,902
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Syce3 |
synaptonemal complex central element protein 3 |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,456,800...120,482,882
Ensembl chr 7:120,456,800...120,482,973
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Tymp |
thymidine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy |
ClinVar |
PMID:21665002 PMID:28005197 PMID:28492532 PMID:28902413 |
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NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Crppa |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy |
ClinVar |
PMID:22522420 PMID:25741868 PMID:28492532 |
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy |
ClinVar |
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:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:28112097 PMID:28479227 PMID:28492532 PMID:30564623 PMID:30919934 PMID:31268217 PMID:32419263 PMID:34008892 PMID:34653404 More...
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO ISS |
DNA:mutations: cds:multiple ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy |
MouseDO ClinVar RGD |
PMID:23768512 PMID:25326637 PMID:25741868 PMID:26310427 PMID:27766311 PMID:28492532 PMID:29437916 PMID:30257713 PMID:26310427 More...
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RGD:11530903 |
NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1 |
OMIM ClinVar |
PMID:11053679 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:16717220 PMID:17559086 PMID:17869517 PMID:17878207 PMID:18513969 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:22323514 PMID:22549409 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 More...
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Pomt1 |
protein-O-mannosyltransferase 1 |
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ISS |
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MouseDO |
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISS |
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 |
MouseDO |
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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Fkrp |
fukutin related protein |
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ISS |
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 |
MouseDO |
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NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn |
fukutin |
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ISS |
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 |
MouseDO |
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISS |
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 |
MouseDO |
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISS |
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 |
MouseDO |
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Pomt1 |
protein-O-mannosyltransferase 1 |
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ISS |
OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094 |
MouseDO |
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NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 |
OMIM ClinVar |
PMID:19901254 PMID:23768512 PMID:23894383 PMID:24033266 PMID:24780531 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:28877744 PMID:29437916 PMID:30257713 PMID:31980526 PMID:34008892 More...
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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Dpm3 |
dolichyl-phosphate mannosyltransferase subunit 3, regulatory |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 |
OMIM ClinVar |
PMID:31469168 |
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NCBI chr 2:174,676,532...174,677,047
Ensembl chr 2:174,676,363...174,677,668
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Pomt2 |
protein-O-mannosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED |
OMIM ClinVar |
PMID:16701995 PMID:17634419 PMID:17878207 PMID:17878297 PMID:18513969 PMID:19138766 PMID:19299310 PMID:24002165 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 More...
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NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED |
OMIM ClinVar |
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:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30961548 PMID:34324503 More...
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NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED |
ClinVar |
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:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30961548 PMID:34324503 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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Fktn |
fukutin |
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ISO |
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED |
OMIM ClinVar |
PMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19299310 PMID:19396839 PMID:20620061 PMID:20961758 PMID:21520333 PMID:23582336 PMID:24033266 PMID:25741868 PMID:25821721 PMID:26467025 PMID:26809617 PMID:26923585 PMID:28492532 PMID:28680109 PMID:30060766 More...
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NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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Fkrp |
fukutin related protein |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5 DNA:missense mutations: :p.A455D, p.V405L (human) |
OMIM ClinVar RGD |
PMID:11053680 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 PMID:12666124 PMID:12707439 PMID:14647208 PMID:14652796 PMID:15060126 PMID:15574464 PMID:15580560 PMID:15833432 PMID:15883334 PMID:15886712 PMID:16344347 PMID:16368217 PMID:16476814 PMID:16634037 PMID:16786213 PMID:17336067 PMID:17554798 PMID:17559086 PMID:17952692 PMID:18060779 PMID:18414213 PMID:18593008 PMID:18639457 PMID:18671187 PMID:18752264 PMID:19244252 PMID:19705481 PMID:19820980 PMID:19833706 PMID:19835634 PMID:19900540 PMID:19955119 PMID:20961759 PMID:21220724 PMID:21228398 PMID:22264518 PMID:22981120 PMID:23420653 PMID:23576288 PMID:23591631 PMID:23757202 PMID:23894383 PMID:24033266 PMID:24447024 PMID:25048216 PMID:25560911 PMID:25741868 PMID:26363967 PMID:26467025 PMID:26574668 PMID:26833294 PMID:27439679 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:29065428 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31671740 PMID:32864802 PMID:34008892 PMID:34653404 PMID:14652796 More...
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RGD:1358626 |
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Bpifc |
BPI fold containing family C |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,848,787...17,905,993
Ensembl chr 7:17,861,007...17,905,919
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Depdc5 |
DEP domain containing 5, GATOR1 subcomplex subunit |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Fbxo7 |
F-box protein 7 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,809,224...17,837,549
Ensembl chr 7:17,809,231...17,837,530
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Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar OMIM RGD |
PMID:9536098 PMID:12966029 PMID:15661757 PMID:16199547 PMID:17576681 PMID:17878207 PMID:18414213 PMID:19067344 PMID:21727005 PMID:24709677 PMID:25741868 PMID:26467025 PMID:28454995 PMID:28492532 PMID:12966029 More...
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RGD:1358756 |
NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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Rtcb |
RNA 2',3'-cyclic phosphate and 5'-OH ligase |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,907,786...17,927,134
Ensembl chr 7:17,907,705...17,927,132
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G |
Slc5a1 |
solute carrier family 5 member 1 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,553,990...77,618,589
Ensembl chr14:77,553,843...77,618,547
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Slc5a4 |
solute carrier family 5 member 4 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,475,644...12,518,738
Ensembl chr20:12,475,644...12,518,738
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Syn3 |
synapsin III |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
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Ywhah |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 |
ClinVar |
PMID:28492532 |
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NCBI chr14:77,696,332...77,705,715
Ensembl chr14:77,696,333...77,705,741
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Pomk |
protein-O-mannose kinase |
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ISO |
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy due to POMK deficiency |
OMIM ClinVar |
PMID:24556084 PMID:24925318 PMID:25741868 PMID:28492532 PMID:29910097 |
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NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 |
OMIM ClinVar |
PMID:25741868 PMID:27066570 PMID:28492532 |
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NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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Acta1 |
actin, alpha 1, skeletal muscle |
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ISO |
ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine |
ClinVar |
PMID:27854218 |
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NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
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G |
Ldlrap1 |
low density lipoprotein receptor adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy |
ClinVar |
PMID:21131290 PMID:21670436 PMID:28492532 |
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NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601
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G |
Man1c1 |
mannosidase, alpha, class 1C, member 1 |
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ISO |
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy |
ClinVar |
PMID:21131290 PMID:21670436 PMID:28492532 |
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NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421
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G |
Ryr1 |
ryanodine receptor 1 |
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ISO |
ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis | ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease |
ClinVar |
PMID:17033962 PMID:18414213 PMID:20080402 PMID:20583297 PMID:20839240 PMID:21674524 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24950660 PMID:24951453 PMID:25214167 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:25958340 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 PMID:34008892 More...
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NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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Selenon |
selenoprotein N |
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ISO |
DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human) ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy |
ClinVar OMIM RGD |
PMID:7224095 PMID:9536098 PMID:11079538 PMID:11528383 PMID:12192640 PMID:12207930 PMID:15122708 PMID:15668457 PMID:15792869 PMID:16199547 PMID:16365872 PMID:17365175 PMID:17576681 PMID:17951086 PMID:18313359 PMID:18414213 PMID:18713863 PMID:19067361 PMID:19557870 PMID:19763152 PMID:20307669 PMID:20623375 PMID:20937510 PMID:21131290 PMID:21670436 PMID:22406018 PMID:23394784 PMID:24033266 PMID:24988964 PMID:25182138 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27066551 PMID:27447704 PMID:28357410 PMID:28492532 PMID:28558865 PMID:28688748 PMID:29382405 PMID:30612914 PMID:30642275 PMID:30921636 PMID:30932294 PMID:31127727 PMID:31321302 PMID:32403337 PMID:32796131 PMID:32860008 PMID:11528383 More...
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RGD:1599352 |
NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 |
CTD ClinVar |
PMID:16199547 PMID:24334604 PMID:25741868 PMID:28492532 PMID:28973083 |
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: COL6A1-related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:9724608 PMID:15689448 PMID:16130093 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20576434 PMID:20882040 PMID:20976770 PMID:23572247 PMID:24038877 PMID:24801232 PMID:24959844 PMID:25741868 PMID:26467025 PMID:27708273 PMID:28182637 PMID:28424332 PMID:28492532 PMID:30895940 PMID:34008892 More...
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 PMID:15563506 PMID:15689448 PMID:16075202 PMID:16935502 PMID:17886299 PMID:18414213 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20106987 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:23040494 PMID:24033266 PMID:24038877 PMID:24271325 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 PMID:30564623 PMID:32860008 More...
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NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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G |
Col6a3 |
collagen type VI alpha 3 chain |
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ISO |
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant |
OMIM ClinVar |
PMID:7695699 PMID:8218237 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20976770 PMID:21280092 PMID:23040494 PMID:24038877 PMID:24271325 PMID:24518369 PMID:25326635 PMID:25635128 PMID:25741868 PMID:26004199 PMID:26467025 PMID:28492532 PMID:29419890 More...
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NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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G |
Col12a1 |
collagen type XII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 |
OMIM ClinVar |
PMID:8601036 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24334604 PMID:24334769 PMID:25363768 PMID:25741868 PMID:27159402 PMID:27348394 PMID:28166811 PMID:28407358 PMID:28492532 PMID:28973083 PMID:30160830 PMID:31127727 PMID:31273343 PMID:33129849 PMID:224334604 More...
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NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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G |
Aqp4 |
aquaporin 4 |
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ISO |
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RGD |
PMID:20680099 |
RGD:5148028 |
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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G |
B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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G |
Calm3 |
calmodulin 3 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,590,668...77,597,776
Ensembl chr 1:77,589,230...77,592,207
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G |
Celsr1 |
cadherin, EGF LAG seven-pass G-type receptor 1 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164
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G |
Col4a1 |
collagen type IV alpha 1 chain |
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ISS |
OMIM:236670 | OMIM:253280 |
MouseDO |
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NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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G |
Crppa |
CDP-L-ribitol pyrophosphorylase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22522420 PMID:22522421 |
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NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
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G |
Dact3 |
dishevelled-binding antagonist of beta-catenin 3 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,546,900...77,558,631
Ensembl chr 1:77,546,900...77,558,630
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G |
Dag1 |
dystroglycan 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18923033 PMID:24824861 |
RGD:11537405, RGD:11537406 |
NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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G |
Fkrp |
fukutin related protein |
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ISO |
DNA:missense mutation:exon:p.M1V (c.1A>G) (human) ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:11071142 PMID:11592034 PMID:11741828 PMID:12471058 PMID:12654965 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:16344347 PMID:16368217 PMID:16476814 PMID:16634037 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:19705481 PMID:19820980 PMID:19835634 PMID:19900540 PMID:19917824 PMID:19955119 PMID:20623375 PMID:20961759 PMID:21220724 PMID:21228398 PMID:21296577 PMID:21816046 PMID:21886772 PMID:22264518 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:25987458 PMID:26320847 PMID:26363967 PMID:26436962 PMID:26467025 PMID:26574668 PMID:26833294 PMID:26923585 PMID:26990548 PMID:27302555 PMID:27363342 PMID:27439679 PMID:27671536 PMID:27848944 PMID:27854218 PMID:27884173 PMID:28112097 PMID:28454995 PMID:28479227 PMID:28492532 PMID:28629604 PMID:28688748 PMID:28931339 PMID:29065428 PMID:30003095 PMID:30060766 PMID:30564623 PMID:30919934 PMID:31041397 PMID:31268217 PMID:31638414 PMID:31671740 PMID:31862442 PMID:32419263 PMID:32746448 PMID:32864802 PMID:33077954 PMID:34008892 PMID:34653404 PMID:20236121 More...
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RGD:11667969 |
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Fktn |
fukutin |
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ISO |
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutation, nonsense mutation, insertions: :multiple DNA:insertion:exon:c.1167insA (human) |
ClinVar CTD RGD |
PMID:9536098 PMID:9690476 PMID:10545611 PMID:11165248 PMID:12601708 PMID:14627679 PMID:15833426 PMID:16199547 PMID:17034757 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:21228398 PMID:21520333 PMID:22037554 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25525159 PMID:25741868 PMID:25814170 PMID:25821721 PMID:26130484 PMID:26467025 PMID:26633542 PMID:26636822 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:27357428 PMID:28166811 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:28785732 PMID:28798025 PMID:30060766 PMID:31983221 PMID:32969603 PMID:33048919 PMID:34008892 PMID:34120883 PMID:9690476 PMID:24824861 PMID:10545611 PMID:19266496 More...
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RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 |
NCBI chr 5:68,339,803...68,396,412
Ensembl chr 5:68,340,028...68,396,409
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G |
Fsd1l |
fibronectin type III and SPRY domain containing 1-like |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:17044012 PMID:17878207 PMID:18752264 PMID:28492532 |
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NCBI chr 5:68,258,877...68,334,931
Ensembl chr 5:68,258,932...68,334,928
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G |
Gmppb |
GDP-mannose pyrophosphorylase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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G |
Gng8 |
G protein subunit gamma 8 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,564,512...77,568,371
Ensembl chr 1:77,564,515...77,568,371
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G |
Large1 |
LARGE xylosyl- and glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
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NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
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G |
Pomgnt1 |
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
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ISO |
DNA:missense mutations, nonsense mutation: :multiple ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human) DNA:missense mutations, splice-site mutations, deletions: :multiple DNA:deletions, splice-site mutation:exon, intron:multiple |
ClinVar CTD RGD |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 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:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33175337 PMID:33200426 PMID:34324503 PMID:23689641 PMID:15236414 PMID:11709191 PMID:22554691 More...
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RGD:11532772, RGD:11071487, RGD:1554293, RGD:11065512 |
NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
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G |
Pomgnt2 |
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:26060116 |
RGD:11532770 |
NCBI chr 8:121,645,106...121,660,761
Ensembl chr 8:121,644,970...121,660,757
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G |
Pomk |
protein-O-mannose kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr16:66,085,569...66,101,360
Ensembl chr16:66,088,000...66,098,388
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G |
Pomt1 |
protein-O-mannosyltransferase 1 |
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ISO |
DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human) DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple |
ClinVar CTD RGD |
PMID:11320179 PMID:12369018 PMID:14678799 PMID:15637732 PMID:15792865 PMID:16575835 PMID:17559086 PMID:17878207 PMID:18640039 PMID:18647264 PMID:18752264 PMID:19299310 PMID:22323514 PMID:23757202 PMID:24033266 PMID:24304607 PMID:24491487 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32860008 PMID:12369018 PMID:15637732 PMID:16575835 More...
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RGD:731235, RGD:11073321, RGD:11532686 |
NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581
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G |
Pomt2 |
protein-O-mannosyltransferase 2 |
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ISO |
DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human) ClinVar Annotator: match by term: Pagon syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:17634419 PMID:17878207 PMID:17878297 PMID:19138766 PMID:19299310 PMID:24002165 PMID:25741868 PMID:27854218 PMID:28492532 PMID:15894594 More...
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RGD:11532761 |
NCBI chr 6:106,755,462...106,794,849
Ensembl chr 6:106,755,462...106,794,849
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G |
Prkd2 |
protein kinase D2 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,513,625...77,542,386
Ensembl chr 1:77,513,986...77,542,376
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G |
Ptgir |
prostaglandin I2 receptor |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,579,596...77,581,979
Ensembl chr 1:77,579,596...77,581,979
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G |
Rxylt1 |
ribitol xylosyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
CTD ClinVar |
PMID:23217329 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 7:57,770,841...57,782,695
Ensembl chr 7:57,770,842...57,782,657
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G |
Strn4 |
striatin 4 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 1:77,482,267...77,511,862
Ensembl chr 1:77,482,094...77,511,858
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G |
Tal2 |
TAL bHLH transcription factor 2 |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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G |
Tmem38b |
transmembrane protein 38B |
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ISO |
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chr 5:68,460,304...68,496,026
Ensembl chr 5:68,460,304...68,496,025
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G |
Tspan1 |
tetraspanin 1 |
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ISO |
ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy |
ClinVar |
PMID:9536098 PMID:11709191 PMID:12588800 PMID:12788071 PMID:12849864 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:27391550 PMID:27493216 PMID:27884173 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28765568 PMID:28832562 PMID:29302074 PMID:30937090 PMID:30961548 PMID:31066047 PMID:32404165 PMID:33175337 PMID:33200426 PMID:34324503 More...
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NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
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