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G |
Epcam |
epithelial cell adhesion molecule |
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ISO ISS |
ClinVar Annotator: match by term: Congenital diarrhea 5 with tufting enteropathy | ClinVar Annotator: match by term: Congenital tufting enteropathy | ClinVar Annotator: match by term: INTESTINAL EPITHELIAL CELL DYSPLASIA OMIM:613217 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:18572020 PMID:19820410 PMID:20034091 PMID:21315192 PMID:23462293 PMID:24033266 PMID:24142340 PMID:25637381 PMID:25741868 PMID:25741909 PMID:28492532 PMID:28701297 PMID:36988593 More...
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NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
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G |
C4h12orf60 |
similar to human chromosome 12 open reading frame 60 |
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ISO |
ClinVar Annotator: match by term: Congenital diarrhea 6 |
ClinVar |
PMID:22436048 PMID:25741868 |
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NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
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Gucy2c |
guanylate cyclase 2C |
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ISO |
ClinVar Annotator: match by term: Congenital diarrhea 6 |
OMIM ClinVar |
PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33883099 |
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NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
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Dgat1 |
diacylglycerol O-acyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: Diarrhea 7 |
OMIM ClinVar |
PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:25741913 PMID:26883093 PMID:28373485 PMID:28492532 PMID:29604290 PMID:30237576 PMID:31778854 PMID:33607125 More...
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NCBI chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299
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G |
Neurog3 |
neurogenin 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital malabsorptive diarrhea 4 | ClinVar Annotator: match by term: ENTERIC ANENDOCRINOSIS |
OMIM CTD ClinVar |
PMID:16855267 PMID:24033266 PMID:25741868 PMID:26541772 PMID:28492532 PMID:31178402 PMID:31805014 More...
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NCBI chr20:30,079,780...30,081,262
Ensembl chr20:30,079,780...30,081,262
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G |
Gucy2c |
guanylate cyclase 2C |
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ISO |
ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
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G |
Slc26a3 |
solute carrier family 26 member 3 |
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ISO ISS |
ClinVar Annotator: match by term: Congenital secretory diarrhea, chloride type | ClinVar Annotator: match by term: SLC26A3-related condition OMIM:214700 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8896562 PMID:9554749 PMID:9718329 PMID:9886994 PMID:10671059 PMID:10881594 PMID:11302976 PMID:11524734 PMID:12411484 PMID:12442266 PMID:16199547 PMID:18216024 PMID:18728535 PMID:18847625 PMID:19861545 PMID:21127979 PMID:21150650 PMID:21332001 PMID:21394828 PMID:21694535 PMID:21853658 PMID:22779076 PMID:23274434 PMID:23361499 PMID:23756661 PMID:24033266 PMID:24350656 PMID:25568271 PMID:25711268 PMID:25741868 PMID:25741905 PMID:27525615 PMID:28422190 PMID:28492532 PMID:28644346 PMID:29086717 PMID:30775050 PMID:31114672 PMID:31325522 PMID:31680349 PMID:31976143 PMID:33191723 PMID:34503561 More...
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NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
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Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 3 | ClinVar Annotator: match by term: Congenital sodium diarrhea |
OMIM CTD ClinVar |
PMID:9536098 PMID:11113072 PMID:17576681 PMID:17786112 PMID:19185281 PMID:20009592 PMID:23689399 PMID:24142340 PMID:25741868 PMID:28492532 PMID:30445423 More...
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NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Slc9a3 |
solute carrier family 9 member A3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital secretory sodium diarrhea 8 |
OMIM CTD ClinVar |
PMID:3880821 PMID:25741868 PMID:26358773 PMID:28492532 PMID:30633106 PMID:31276831 More...
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NCBI chr 1:29,124,633...29,167,912
Ensembl chr 1:29,124,674...29,167,417
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G |
Spint2 |
serine peptidase inhibitor, Kunitz type, 2 |
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ISO |
ClinVar Annotator: match by term: Congenital sodium diarrhea |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:84,558,159...84,580,616
Ensembl chr 1:84,558,166...84,580,616
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Cdc42 |
cell division cycle 42 |
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ISS |
OMIM:251850 |
MouseDO |
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NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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Myo5b |
myosin Vb |
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ISO ISS |
ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: Diarrhea with Microvillus Atrophy | ClinVar Annotator: match by term: MYO5B-related condition OMIM:251850 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18724368 PMID:19006234 PMID:20186687 PMID:21206382 PMID:21282656 PMID:24014347 PMID:24033266 PMID:25111220 PMID:25741868 PMID:25741895 PMID:25741915 PMID:26553929 PMID:27242896 PMID:27532546 PMID:28027573 PMID:28492532 PMID:28899465 PMID:29218485 PMID:29266534 PMID:31750554 PMID:32304554 PMID:32888943 PMID:33525641 More...
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NCBI chr18:68,038,759...68,341,568
Ensembl chr18:68,038,759...68,338,745
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Stx3 |
syntaxin 3 |
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ISO |
ClinVar Annotator: match by term: Diarrhea 12, with microvillus atrophy |
OMIM ClinVar |
PMID:24726755 PMID:28492532 PMID:29282386 |
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NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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Unc45a |
unc-45 myosin chaperone A |
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ISO |
ClinVar Annotator: match by term: Osteootohepatoenteric syndrome |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 |
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NCBI chr 1:134,281,930...134,296,661
Ensembl chr 1:134,281,933...134,301,586
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G |
Stx3 |
syntaxin 3 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease |
OMIM ClinVar |
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NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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