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18 phene records found |
[show instead gene records] |
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OMIA ID | Phene | Species Scientific Name | Species Common Name | Gene | Year Key Mutation First Reported | Date Last Modified |
---|---|---|---|---|---|---|
OMIA:002317-9986 | Abnormal gait, retinal dysplasia, cataracts, RORB-related | Oryctolagus cuniculus | rabbit | RORB | 2021 | 2022-10-31 |
OMIA:000017-9986 | Adrenal insufficiency, congenital, CYP11A1-related | Oryctolagus cuniculus | rabbit | CYP11A1 | 1993 | 2023-09-29 |
OMIA:002600-9986 | Amelogenesis imperfecta, FAM83H-related | Oryctolagus cuniculus | rabbit | FAM83H | 2022 | 2023-12-18 |
OMIA:002735-9986 | Cataract, GJA8-related | Oryctolagus cuniculus | rabbit | GJA8 | 2016 | 2023-12-18 |
OMIA:002865-9986 | Cerebral palsy, RHOB-related | Oryctolagus cuniculus | rabbit | RHOB | 2024 | 2024-08-11 |
OMIA:000202-9986 | Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related | Oryctolagus cuniculus | rabbit | TYR | 2000 | 2023-03-06 |
OMIA:001794-9986 | Cystic fibrosis | Oryctolagus cuniculus | rabbit | CFTR | 2020 | 2024-02-21 |
OMIA:001709-9986 | Difference of sexual development, DMRT1-related | Oryctolagus cuniculus | rabbit | DMRT1 | 2023 | 2023-12-18 |
OMIA:000299-9986 | Dwarfism, generic | Oryctolagus cuniculus | rabbit | HMGA2 | 2017 | 2023-03-06 |
OMIA:002157-9986 | Ectodermal dysplasia-9 | Oryctolagus cuniculus | rabbit | HOXC13 | 2019 | 2023-12-10 |
OMIA:001160-9986 | Hyperlipidaemia | Oryctolagus cuniculus | rabbit | LDLR | 1986 | 2013-05-17 |
OMIA:002063-9986 | Hyperlipidaemia/atherosclerosis, APOE-related | Oryctolagus cuniculus | rabbit | APOE | 2016 | 2023-12-18 |
OMIA:000628-9986 | Marfan syndrome | Oryctolagus cuniculus | rabbit | FBN1 | 2018 | 2023-12-10 |
OMIA:002688-9986 | Microcephaly, YIPF5-related | Oryctolagus cuniculus | rabbit | YIPF5 | 2023 | 2023-12-18 |
OMIA:001962-9986 | Neuronal ceroid lipofuscinosis, 7 | Oryctolagus cuniculus | rabbit | MFSD8 | 2024 | 2024-05-09 |
OMIA:001213-9986 | Premature senesence | Oryctolagus cuniculus | rabbit | LMNA | 2019 | 2024-01-18 |
OMIA:000770-9986 | Tremor, X-linked | Oryctolagus cuniculus | rabbit | PLP1 | 1994 | 2023-03-06 |
OMIA:001230-9986 | XY sex reversal, SRY-related | Oryctolagus cuniculus | rabbit | SRY | 2017 | 2023-12-18 |