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G |
Atoh7 |
atonal bHLH transcription factor 7 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:28492532 PMID:31696227 |
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NCBI chr20:25,530,826...25,531,275
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G |
Gpr143 |
G protein-coupled receptor 143 |
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ISO |
ClinVar Annotator: match by term: GPR143-related foveal hypoplasia |
ClinVar |
PMID:15965158 PMID:18978956 PMID:19390656 PMID:21541274 PMID:25741868 PMID:26160353 PMID:28211458 PMID:28492532 PMID:29345414 PMID:33785018 More...
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NCBI chr X:25,498,601...25,523,408
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G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29385733 |
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NCBI chr15:29,007,059...29,011,480
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G |
Opa3 |
outer mitochondrial membrane lipid metabolism regulator OPA3 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:31696227 |
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NCBI chr 1:78,879,612...78,910,453
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G |
Slc38a8 |
solute carrier family 38, member 8 |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:24045842 PMID:28492532 PMID:32032626 PMID:33594928 PMID:35029636 |
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NCBI chr19:47,522,781...47,561,443
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G |
Tyr |
tyrosinase |
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ISO |
ClinVar Annotator: match by term: Foveal hypoplasia |
ClinVar |
PMID:666627 PMID:1429711 PMID:1820207 PMID:7704033 PMID:7955413 PMID:9158138 PMID:10766867 PMID:11295837 PMID:17952075 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:27734839 PMID:28378818 PMID:28492532 PMID:28976636 PMID:29345414 PMID:30472657 PMID:31077556 PMID:35803923 More...
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NCBI chr 1:150,527,687...150,622,857
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome |
ClinVar |
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 |
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NCBI chr 3:92,162,271...92,385,251
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G |
Pax6 |
paired box 6 |
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ISO |
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia 1 with cataract | ClinVar Annotator: match by term: Foveal hypoplasia 1 with or without anterior segment anomalies | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8364574 PMID:8640214 PMID:9727514 PMID:9931324 PMID:10234503 PMID:10441571 PMID:12634864 PMID:12868034 PMID:14744876 PMID:15086958 PMID:15629294 PMID:16407227 PMID:17417613 PMID:18332330 PMID:18483559 PMID:18776953 PMID:22361317 PMID:22692063 PMID:23404109 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27013732 PMID:28321846 PMID:28492532 PMID:32360764 More...
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NCBI chr 3:92,128,772...92,157,022
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G |
Slc38a8 |
solute carrier family 38, member 8 |
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ISO ISS |
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS | ClinVar Annotator: match by term: Foveal hypoplasia 2 | ClinVar Annotator: match by term: Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis | ClinVar Annotator: match by term: SLC38A8-related condition OMIM:609218 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:16199547 PMID:16707527 PMID:19590516 PMID:24045842 PMID:24290379 PMID:25741868 PMID:28492532 PMID:28546991 PMID:29345414 PMID:32032626 PMID:32830442 PMID:33498813 PMID:33594928 PMID:33781268 PMID:34415986 PMID:35029636 More...
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NCBI chr19:47,522,781...47,561,443
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G |
Ahr |
aryl hydrocarbon receptor |
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ISO |
ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 3 | ClinVar Annotator: match by term: Infantile nystagmus with foveal hypoplasia |
OMIM ClinVar |
PMID:25741868 PMID:31009037 PMID:33193710 PMID:35188035 |
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NCBI chr 6:57,961,423...57,998,901
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