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90 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:002790-7962 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | Cyprinus carpio | common carp | cyp17A1 | 2022 | 2023-12-10 |
| OMIA:001243-9601 | Alkaptonuria | Pongo abelii | Sumatran orangutan | HGD | 2023 | 2023-10-15 |
| OMIA:000032-9669 | Alpha-1-antitrypsin deficiency | Mustela putorius furo | domestic ferret | SERPINA1 | 2018 | 2023-12-10 |
| OMIA:002538-9541 | Alzheimer disease, APP-related | Macaca fascicularis | crab-eating macaque | APP | 2020 | 2023-12-18 |
| OMIA:000991-8153 | Androgen insensitivity syndrome (AIS) | Haplochromis burtoni | Burton's mouthbrooder | AR alpha, AR beta | 2020 | 2023-12-10 |
| OMIA:002473-9483 | Ataxia, spinocerebellar, ATXN3-related | Callithrix jacchus | white-tufted-ear marmoset | ATXN3 | 2020 | 2023-12-10 |
| OMIA:001348-9544 | Atrichia with papular lesions | Macaca mulatta | Rhesus monkey | HR | 2002 | 2011-12-12 |
| OMIA:000545-93934 | Axonopathy, hypotrophic | Coturnix japonica | Japanese quail | NEFL | 1993 | 2012-03-21 |
| OMIA:002216-9544 | Bardet-Biedl syndrome 7 | Macaca mulatta | Rhesus monkey | BBS7 | 2019 | 2019-10-22 |
| OMIA:001990-9541 | Cancer, TP53-related | Macaca fascicularis | crab-eating macaque | TP53 | 2015 | 2023-12-18 |
| OMIA:000162-9103 | Cardiomyopathy, dilated | Meleagris gallopavo | turkey | TNNT2 | 2002 | 2012-01-22 |
| OMIA:000162-10036 | Cardiomyopathy, dilated | Mesocricetus auratus | golden hamster | SGCD | 1997 | 2014-02-26 |
| OMIA:002796-9541 | Cardiomyopathy, dilated, LMNA-related | Macaca fascicularis | crab-eating macaque | LMNA | 2024 | 2024-04-06 |
| OMIA:002211-10036 | Cardiomyopathy, hypertrophic, SGCD-related | Mesocricetus auratus | golden hamster | SGCD | 1997 | 2022-09-17 |
| OMIA:000168-10141 | Cataract, generic | Cavia porcellus | domestic guinea pig | Cryz | 1992 | 2020-03-31 |
| OMIA:002309-9646 | Cataract, MIP-related | Ailuropoda melanoleuca | giant panda | MIP | 2021 | 2021-02-18 |
| OMIA:000185-452646 | Chediak-Higashi syndrome | Neovison vison | American mink | LYST | 2013 | 2013-11-08 |
| OMIA:002648-9541 | Circadian disruption, BMAL1-related | Macaca fascicularis | crab-eating macaque | BMAL1 | 2023-12-18 | |
| OMIA:001821-9593 | Coat colour, albinism, oculocutaneous type IV | Gorilla gorilla | western gorilla | SLC45A2 | 2013 | 2017-12-11 |
| OMIA:001821-8090 | Coat colour, albinism, oculocutaneous type IV | Oryzias latipes | Japanese medaka | slc45a2 | 2008 | 2013-06-21 |
| OMIA:002116-69293 | Coat colour, albinism, oculocutaneous, HPS5-related | Gasterosteus aculeatus | three-spined stickleback | Hps5 | 2017 | 2017-08-15 |
| OMIA:001274-452646 | Coat colour, black crystal | Neovison vison | American mink | COPA | 2022 | 2022-11-23 |
| OMIA:001645-10036 | Coat colour, black tremor | Mesocricetus auratus | golden hamster | Atrn | 2002 | 2019-05-06 |
| OMIA:001680-452646 | Coat colour, dominant white with bilateral deafness | Neovison vison | American mink | MITF | 2019 | 2022-11-15 |
| OMIA:000202-8296 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Ambystoma mexicanum | axolotl | TYR | 2017 | 2024-09-30 |
| OMIA:000202-89462 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Bubalus bubalis | water buffalo | TYR | 2012 | 2024-08-24 |
| OMIA:000202-31143 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Elaphe climacophora | Japanese ratsnake | TYR | 2018 | 2021-04-09 |
| OMIA:000202-9544 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Macaca mulatta | Rhesus monkey | TYR | 2000 | 2023-08-14 |
| OMIA:000202-9773 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Megaptera novaeangliae | humpback whale | TYR | 2012 | 2019-02-11 |
| OMIA:000202-9669 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Mustela putorius furo | domestic ferret | TYR | 2007 | 2012-03-21 |
| OMIA:000202-452646 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Neovison vison | American mink | TYR | 2008 | 2020-06-24 |
| OMIA:000202-476259 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Nyctereutes procyonoides viverrinus | Japanese raccoon dog | TYR | 2020 | 2021-04-09 |
| OMIA:000202-8090 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Oryzias latipes | Japanese medaka | tyr | 1995 | 2023-05-16 |
| OMIA:000202-9515 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Sapajus apella | Tufted capuchin | TYR | 2017 | 2017-05-11 |
| OMIA:000202-9627 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Vulpes vulpes | red fox | TYR | 2019 | 2019-09-21 |
| OMIA:002160-9544 | Colorectal cancer, hereditary nonpolyposis, MSH6-related | Macaca mulatta | Rhesus monkey | MSH6 | 2018 | 2018-09-21 |
| OMIA:002145-9544 | Colorectal cancer, MLH1-related | Macaca mulatta | Rhesus monkey | MLH1 | 2018 | 2022-11-15 |
| OMIA:002163-9544 | Cone dystrophy 4, PDE6C-related | Macaca mulatta | Rhesus monkey | PDE6C | 2019 | 2019-02-05 |
| OMIA:002694-8128 | Craniofacial deformities, SOX9-related | Oreochromis niloticus | Nile tilapia | SOX9a | 2023 | 2023-12-18 |
| OMIA:000240-8839 | Crest | Anas platyrhynchos | Mallard | TAS2R40 | 2023 | 2023-09-04 |
| OMIA:000240-328808 | Crest | Streptopelia risoria | ringneck dove | EphB2 | 2015 | 2016-08-05 |
| OMIA:002158-9541 | Developmental retardation | Macaca fascicularis | crab-eating macaque | SIRT6 | 2018 | 2023-12-10 |
| OMIA:000284-10036 | Diabetes mellitus, type 2 | Mesocricetus auratus | golden hamster | Irs2 | 2024 | 2024-09-02 |
| OMIA:001709-8090 | Difference of sexual development, DMRT1-related | Oryzias latipes | Japanese medaka | DMRT1 | 2012 | 2012-07-11 |
| OMIA:002820-310915 | DND1 deficiency | Pangasianodon hypophthalmus | striped catfish | dnd1 | 2024 | 2024-01-25 |
| OMIA:002807-8966 | Drug metabolism, poor, CYP2C19-related | Gyps coprotheres | cape vulture | CYP2C19 | 2023 | 2023-11-29 |
| OMIA:001271-9915 | Dwarfism, ACAN-related | Bos indicus | indicine cattle (zebu) | ACAN | 2018 | 2023-06-19 |
| OMIA:001473-9915 | Dwarfism, growth-hormone deficiency | Bos indicus | indicine cattle (zebu) | GH1 | 2009 | 2021-07-11 |
| OMIA:002537-9541 | Encephalopathy, STXBP1-related | Macaca fascicularis | crab-eating macaque | STXBP1 | 2022 | 2023-12-18 |
| OMIA:000361-9783 | Factor VII deficiency | Elephas maximus | Asiatic elephant | F7 | 2017 | 2017-01-26 |
| OMIA:001654-8932 | Feather colour, almond | Columba livia | rock pigeon | MLANA | 2020 | 2020-06-03 |
| OMIA:000370-93934 | Feather colour, SLC45A2-related | Coturnix japonica | Japanese quail | SLC45A2 | 2007 | 2024-02-09 |
| OMIA:002772-9541 | Frontotemporal dementia, MAPT-related | Macaca fascicularis | crab-eating macaque | MAPT | 2023 | 2023-12-18 |
| OMIA:001461-9217 | Gangliosidosis, GM2, type I (B variant) | Phoenicopterus ruber | American flamingo | HEXA | 2008 | 2020-05-15 |
| OMIA:000439-10036 | Hair, long | Mesocricetus auratus | golden hamster | Fgf5 | 2014 | 2016-09-15 |
| OMIA:000449-452646 | Heggedal factor (coat colour) | Neovison vison | American mink | KIT | 2022 | 2024-02-28 |
| OMIA:000499-9541 | Hypercholesterolaemia | Macaca fascicularis | crab-eating macaque | LDLR | 2023 | 2023-12-10 |
| OMIA:000499-9544 | Hypercholesterolaemia | Macaca mulatta | Rhesus monkey | LDLR, MBTPS2 | 1990 | 2023-05-17 |
| OMIA:000578-9544 | Krabbe disease | Macaca mulatta | Rhesus monkey | GALC | 1997 | 2018-03-12 |
| OMIA:001920-27706 | Lethality, GHRH-related | Micropterus salmoides | largemouth bass | GHRH | 2014 | 2021-05-27 |
| OMIA:002573-151761 | Lewy body-like disease, CADPS2-related | Amazona ochrocephala | yellow-crowned parrot | CADPS2 | 2022 | 2022-09-13 |
| OMIA:002891-9669 | Lissencephaly, DCX-related | Mustela putorius furo | domestic ferret | DCX | 2024 | 2024-09-07 |
| OMIA:002658-9541 | Macrocephaly, CHD8-related | Macaca fascicularis | crab-eating macaque | CHD8 | 2023 | 2023-12-18 |
| OMIA:000625-10141 | Mannosidosis, alpha | Cavia porcellus | domestic guinea pig | Man2b1 | 2002 | 2012-03-12 |
| OMIA:002892-9669 | Microcephaly, ASPM-related | Mustela putorius furo | domestic ferret | ASPM | 2015 | 2024-09-07 |
| OMIA:001342-8790 | Mucopolysaccharidosis IIIB | Dromaius novaehollandiae | emu | NAGLU | 2001 | 2018-08-13 |
| OMIA:001081-9544 | Muscular dystrophy, Duchenne type | Macaca mulatta | Rhesus monkey | DMD | 2015 | 2024-10-02 |
| OMIA:000685-9915 | Myasthenic syndrome, congenital, CHRNE-related | Bos indicus | indicine cattle (zebu) | CHRNE | 2002 | 2023-10-08 |
| OMIA:000698-89462 | Myotonia | Bubalus bubalis | water buffalo | CLCN1 | 2013 | 2013-08-17 |
| OMIA:001472-9541 | Neuronal ceroid lipofuscinosis, 2 | Macaca fascicularis | crab-eating macaque | TPP1 | 2023 | 2023-03-17 |
| OMIA:001962-9542 | Neuronal ceroid lipofuscinosis, 7 | Macaca fuscata | Japanese macaque | CLN7 | 2018 | 2019-02-15 |
| OMIA:002815-8090 | NPY2R deficiency | Oryzias latipes | Japanese medaka | npy2r | 2023 | 2024-01-17 |
| OMIA:002130-7994 | Oculocutaneous albinism, OCA2-related | Astyanax mexicanus | Mexican tetra | OCA2 | 2006 | 2023-12-18 |
| OMIA:002130-9544 | Oculocutaneous albinism, OCA2-related | Macaca mulatta | Rhesus monkey | OCA2 | 2020 | 2023-08-14 |
| OMIA:000755-93934 | Osteopetrosis | Coturnix japonica | Japanese quail | MITF | 2001 | 2012-03-21 |
| OMIA:002552-9541 | Pancreatic agenesis, PDX1-related | Macaca fascicularis | crab-eating macaque | PDX1 | 2024 | 2024-09-26 |
| OMIA:002676-8090 | RAD50 double-stranded break point repair protein deficiency | Oryzias latipes | Japanese medaka | rad50 | 2023 | 2023-12-18 |
| OMIA:001695-8090 | Reduced scale-3 | Oryzias latipes | Japanese medaka | edar | 2001 | 2012-06-29 |
| OMIA:001725-7959 | Resistance/susceptibility to grass carp reovirus | Ctenopharyngodon idella | grass carp | CiRIG-I | 2012 | 2023-10-16 |
| OMIA:001694-9598 | Resistance/susceptibility to lentivirus | Pan troglodytes | chimpanzee | CD4 | 2019 | 2023-10-16 |
| OMIA:001675-61379 | Retinal atrophy - Cone-rod dystrophy 2 | Felis nigripes | black-footed cat | IQCB1 | 2017 | 2017-03-24 |
| OMIA:002763-9541 | Severe combined immunodeficiency disease, IL2RG and RAG1-related | Macaca fascicularis | crab-eating macaque | RAG1, IL2RG | 2023 | 2023-12-18 |
| OMIA:002834-8090 | Spondyloepiphyseal dysplasia tarda | Oryzias latipes | Japanese medaka | trappc2 | 2024 | 2024-04-07 |
| OMIA:002702-8090 | Spondyloocular syndrome | Oryzias latipes | Japanese medaka | pax6 | 2023 | 2023-12-18 |
| OMIA:000944-447135 | Spongiform encephalopathy, susceptibility/resistance to | Myodes glareolus | Bank vole | PRNP | 2022 | 2022-11-24 |
| OMIA:001617-32536 | Sweet taste, lack of | Acinonyx jubatus | cheetah | TAS1R2 | 2005 | 2012-03-22 |
| OMIA:001617-9694 | Sweet taste, lack of | Panthera tigris | tiger | TAS1R2 | 2005 | 2012-03-22 |
| OMIA:001401-10036 | Waardenburg syndrome, type 2A | Mesocricetus auratus | golden hamster | MITF | 2003 | 2012-03-21 |
| OMIA:002894-10036 | Woodhouse-Sakati syndrome | Mesocricetus auratus | golden hamster | Dcaf17 | 2024 | 2024-09-08 |
| OMIA:002531-74940 | XY sex reversal, sdY-related | Oncorhynchus tshawytscha | Chinook salmon | sdY | 2022 | 2022-02-21 |