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81 phene records found

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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: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:000202-89462 Coat colour, oculocutaneous albinism type I (OCA1), TYR-related Bubalus bubalis water buffalo TYR 2012 2012-10-17
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:002130-7994 Coat colour, oculocutaneous albinism, OCA2-related Astyanax mexicanus Mexican tetra OCA2 2006 2023-12-18
OMIA:002130-9544 Coat colour, oculocutaneous albinism, OCA2-related Macaca mulatta Rhesus monkey OCA2 2020 2023-08-14
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: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: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:001342-8790 Mucopolysaccharidosis IIIB Dromaius novaehollandiae emu NAGLU 2001 2018-08-13
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:000755-93934 Osteopetrosis Coturnix japonica Japanese quail MITF 2001 2012-03-21
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: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:002531-74940 XY sex reversal, sdY-related Oncorhynchus tshawytscha Chinook salmon sdY 2022 2022-02-21