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G |
ADGRV1 |
adhesion G protein-coupled receptor V1 |
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IAGP ISS EXP |
ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar Annotator: match by term: ADGRV1-related condition OMIM:605472 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic |
ClinVar MouseDO CTD OMIM |
PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18854872 PMID:19357116 PMID:19357117 PMID:20440071 PMID:21569298 PMID:21946352 PMID:22135276 PMID:22147658 PMID:22334370 PMID:22952768 PMID:23441107 PMID:23767834 PMID:23934111 PMID:23967202 PMID:24033266 PMID:24123792 PMID:24154662 PMID:24498627 PMID:25133751 PMID:25262649 PMID:25324289 PMID:25333064 PMID:25404053 PMID:25412400 PMID:25468891 PMID:25741868 PMID:25741869 PMID:26164827 PMID:26226137 PMID:26338283 PMID:26346818 PMID:26467025 PMID:26667666 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27108799 PMID:27460420 PMID:27575413 PMID:27884173 PMID:28041643 PMID:28492532 PMID:29142287 PMID:29261713 PMID:29907799 PMID:30029497 PMID:30180840 PMID:30245029 PMID:30311386 PMID:30718709 PMID:31046701 PMID:31047384 PMID:32037395 PMID:32420686 PMID:32467589 PMID:32707200 PMID:32747562 PMID:32860008 PMID:32962041 PMID:33089500 PMID:33105617 PMID:33247286 PMID:34997062 PMID:35802133 PMID:35813073 PMID:36633841 More...
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NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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G |
CNKSR1 |
connector enhancer of kinase suppressor of Ras 1 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome, type 2C |
ClinVar |
PMID:25741868 |
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NCBI chr 1:26,177,491...26,189,884
Ensembl chr 1:26,177,484...26,189,884
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G |
CRYGC |
crystallin gamma C |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome, type 2C |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828
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G |
FRAS1 |
Fraser extracellular matrix complex subunit 1 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome, type 2C |
ClinVar |
PMID:21900877 PMID:25741868 PMID:28492532 |
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NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
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G |
LOC100507443 |
uncharacterized LOC100507443 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome, type 2C |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 2:208,119,129...208,156,762
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G |
LOC123497934 |
Sharpr-MPRA regulatory region 3426 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,983,092...90,983,386
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G |
LOC128772267 |
melanoma risk locus-associated MPRA allelic enhancer 5:90264394 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,968,505...90,968,649
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G |
LOC128772268 |
melanoma risk locus-associated MPRA allelic enhancer 5:90266068 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,970,179...90,970,323
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G |
LOC128772269 |
melanoma risk locus-associated MPRA allelic enhancer 5:90269376 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,973,487...90,973,631
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G |
LOC128772270 |
melanoma risk locus-associated MPRA allelic enhancer 5:90272756 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,976,867...90,977,011
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G |
LOC128772271 |
melanoma risk locus-associated MPRA allelic enhancer 5:90276298 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,980,409...90,980,553
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G |
LOC128772272 |
melanoma risk locus-associated MPRA allelic enhancer 5:90277675 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,981,786...90,981,930
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G |
LOC128772273 |
melanoma risk locus-associated MPRA allelic enhancer 5:90277863 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 |
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NCBI chr 5:90,981,974...90,982,118
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G |
LOC129389321 |
MPRA-validated peak5350 silencer |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:19357116 PMID:25741868 |
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NCBI chr 5:90,801,339...90,801,539
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G |
PDZD7 |
PDZ domain containing 7 |
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IAGP EXP |
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic |
ClinVar CTD OMIM |
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 PMID:28492532 PMID:32050993 More...
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NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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G |
SLC4A7 |
solute carrier family 4 member 7 |
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ISS |
OMIM:605472 |
MouseDO |
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NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,723...27,484,420
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G |
WDR36 |
WD repeat domain 36 |
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IAGP |
ClinVar Annotator: match by term: Usher syndrome type 2C |
ClinVar |
PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 PMID:25741868 PMID:28492532 More...
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NCBI chr 5:111,092,348...111,130,502
Ensembl chr 5:111,092,321...111,130,502
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