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| DDG2P v3.12 | AKR1D1 | Achchuthan Shanmugasundram reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 12970144; Phenotypes: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, OMIM:235555; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AKR1D1 | Rebecca Foulger reviewed gene: AKR1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AKR1D1 |
Rebecca Foulger gene: AKR1D1 was added gene: AKR1D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 12970144 Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555 |
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