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G |
Actg2 |
actin gamma 2, smooth muscle |
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ISO ISS |
CTD Direct Evidence: marker/mechanism OMIM:155310 ClinVar Annotator: match by term: Infantile visceral myopathy | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal |
CTD MouseDO ClinVar OMIM |
PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:24777424 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:26938784 PMID:27481187 PMID:28422808 PMID:29387497 PMID:29608093 PMID:29781137 PMID:30019982 PMID:31769566 PMID:32814715 PMID:33294969 More...
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NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
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G |
Chrm3 |
cholinergic receptor, muscarinic 3 |
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ISS |
OMIM:155310 |
MouseDO |
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NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
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G |
Lmod1 |
leiomodin 1 |
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ISO |
ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal |
ClinVar |
PMID:28292896 |
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NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal |
ClinVar |
PMID:25407000 PMID:25741868 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Myl9 |
myosin light chain 9 |
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ISO |
ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal |
ClinVar |
PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 |
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NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
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G |
Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal |
ClinVar |
PMID:24033266 PMID:25333361 PMID:25741868 PMID:28492532 PMID:28602422 |
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Mylk |
myosin light chain kinase |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 |
OMIM ClinVar |
PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 PMID:24033266 PMID:25326637 PMID:25637381 PMID:25741868 PMID:26017485 PMID:27146836 PMID:27153395 PMID:27879251 PMID:28139901 PMID:28254189 PMID:28391405 PMID:28492532 PMID:28602422 PMID:29350269 PMID:29543232 PMID:29544503 PMID:29907982 PMID:29961567 PMID:30675029 PMID:30755392 PMID:33895855 PMID:34422331 More...
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NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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G |
Myh11 |
myosin heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:21521776 PMID:22001912 PMID:22511748 PMID:24033266 PMID:25110237 PMID:25407000 PMID:25433566 PMID:25741868 PMID:26017485 PMID:26332594 PMID:27879251 PMID:28469501 PMID:28492532 PMID:29494672 PMID:29543232 PMID:29575632 PMID:29907982 PMID:29961567 PMID:30684648 PMID:30739908 PMID:30885847 PMID:32238909 PMID:33083483 PMID:33726816 PMID:34498425 PMID:35276540 PMID:35393538 PMID:36973604 More...
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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G |
Nde1 |
nudE neurodevelopment protein 1 |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22001912 PMID:24033266 PMID:25741868 PMID:28469501 PMID:28492532 PMID:29543232 PMID:29907982 PMID:32238909 PMID:34498425 PMID:35276540 PMID:35393538 PMID:36973604 More...
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NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
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G |
Lmod1 |
leiomodin 1 |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 |
OMIM ClinVar |
PMID:25741868 PMID:28292896 |
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NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
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G |
Myl9 |
myosin light chain 9 |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 |
ClinVar OMIM |
PMID:21293372 PMID:25741868 PMID:33031641 |
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NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
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G |
Actg2 |
actin gamma 2, smooth muscle |
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ISO |
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 |
OMIM ClinVar |
PMID:11474115 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25326635 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:27481187 PMID:28422808 PMID:29608093 PMID:29781137 PMID:31769566 PMID:33294969 More...
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NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
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