Activity
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6 actions
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| Differences of Sex Development v0.348 | FRAS1 | Zornitza Stark Marked gene: FRAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.348 | FRAS1 | Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.348 | FRAS1 | Zornitza Stark Publications for gene: FRAS1 were set to PMID: 12766769, 18671281, 18000968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.323 | FRAS1 | Chirag Patel Classified gene: FRAS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.323 | FRAS1 | Chirag Patel Gene: fras1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.322 | FRAS1 |
Chirag Patel gene: FRAS1 was added gene: FRAS1 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to PMID: 12766769, 18671281, 18000968 Phenotypes for gene: FRAS1 were set to Fraser syndrome 1, MIM#219000 Review for gene: FRAS1 was set to GREEN Added comment: Fraser syndrome is an autosomal recessive malformation disorder. Major criteria include syndactyly, cryptophthalmos spectrum, urinary tract abnormalities, ambiguous genitalia, laryngeal and tracheal anomalies, and positive family history. Minor criteria include anorectal defects, dysplastic ears, skull ossification defects, umbilical abnormalities, and nasal anomalies. Established gene-disease association. Sources: Literature |
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