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99 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 000593-9685 | Acrodermatitis enteropathica | Felis catus | domestic cat | SLC39A4 | 2021 | 2021-10-03 |
OMIA 001661-9685 | Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiency | Felis catus | domestic cat | CYP11B1 | 2012 | 2021-08-22 |
OMIA 002064-9685 | Autoimmune lymphoproliferative syndrome | Felis catus | domestic cat | FASLG | 2017 | 2022-05-22 |
OMIA 000119-9685 | Blood group system AB | Felis catus | domestic cat | CMAH | 2007 | 2022-04-08 |
OMIA 001551-9685 | Brachycephaly | Felis catus | domestic cat | ALX1 | 2016 | 2020-06-11 |
OMIA 000515-9685 | Cardiomyopathy, hypertrophic | Felis catus | domestic cat | MYBPC3 | 2005 | 2022-05-20 |
OMIA 002316-9685 | Cardiomyopathy, hypertrophic, ALMS1-related | Felis catus | domestic cat | ALMS1 | 2021 | 2022-05-20 |
OMIA 002212-9685 | Cardiomyopathy, hypertrophic, MYH7-related | Felis catus | domestic cat | MYH7 | 2019 | 2021-06-17 |
OMIA 002303-9685 | Cerebral dysgenesis, PEA15 related | Felis catus | domestic cat | PEA15 | 2020 | 2020-12-17 |
OMIA 000185-9685 | Chediak-Higashi syndrome | Felis catus | domestic cat | LYST | 2020 | 2022-05-23 |
OMIA 002541-9685 | Chondrodysplasia, UGDH-related | Felis catus | domestic cat | UGDH | 2020 | 2022-03-22 |
OMIA 002165-9685 | classical Ehlers-Danlos syndrome (cEDS), COL5A1-related | Felis catus | domestic cat | COL5A1 | 2018 | 2022-06-27 |
OMIA 002549-9685 | Coat colour and pattern, charcoal, ASIP-related | Felis catus | domestic cat | ASIP | 2014 | 2022-04-14 |
OMIA 000201-9685 | Coat colour, agouti | Felis catus | domestic cat | ASIP | 2003 | 2022-04-08 |
OMIA 002116-9685 | Coat colour, albinism, oculocutaneous, HPS5-related | Felis catus | domestic cat | HPS5 | 2020 | 2022-01-31 |
OMIA 001249-9685 | Coat colour, brown, TYRP1-related | Felis catus | domestic cat | TYRP1 | 2005 | 2021-06-16 |
OMIA 000031-9685 | Coat colour, dilution, MLPH-related | Felis catus | domestic cat | MLPH | 2006 | 2018-09-13 |
OMIA 000209-9685 | Coat colour, dominant white | Felis catus | domestic cat | KIT | 2014 | 2022-04-08 |
OMIA 001199-9685 | Coat colour, extension | Felis catus | domestic cat | MC1R | 2009 | 2020-06-12 |
OMIA 002159-9685 | Coat colour, golden | Felis catus | domestic cat | CORIN | 2021 | 2022-06-20 |
OMIA 000202-9685 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Felis catus | domestic cat | TYR | 2005 | 2019-02-08 |
OMIA 001429-9685 | Coat colour, tabby | Felis catus | domestic cat | LVRN | 2012 | 2022-02-26 |
OMIA 001484-9685 | Coat colour, ticked (Abyssinian) | Felis catus | domestic cat | DKK4 | 2021 | 2021-11-17 |
OMIA 001737-9685 | Coat colour, white spotting, KIT-related | Felis catus | domestic cat | KIT | 2014 | 2022-04-08 |
OMIA 001581-9685 | Curly coat, Devon rex | Felis catus | domestic cat | KRT71 | 2010 | 2014-05-30 |
OMIA 001712-9685 | Curly coat, Selkirk rex | Felis catus | domestic cat | KRT71 | 2013 | 2013-06-20 |
OMIA 002273-9685 | Curly coat, Ural Rex | Felis catus | domestic cat | LIPH | 2020 | 2020-06-02 |
OMIA 001684-9685 | Curly/woolly coat, Cornish Rex and German Rex | Felis catus | domestic cat | LPAR6 | 2013 | 2022-02-03 |
OMIA 002023-9685 | Cystinuria, type B | Felis catus | domestic cat | SLC7A9 | 2016 | 2022-03-31 |
OMIA 000256-9685 | Cystinuria, type I - A | Felis catus | domestic cat | SLC3A1 | 2014 | 2016-08-04 |
OMIA 001587-9685 | Deficiency of cytosolic arylamine N-acetylation | Felis catus | domestic cat | 1998 | 2020-04-16 | |
OMIA 001586-9685 | Deficient acetaminophen glucuronidation | Felis catus | domestic cat | UGT1A6 | 2000 | 2012-09-17 |
OMIA 001776-9685 | Dihydropyrimidinase deficiency | Felis catus | domestic cat | DPYS | 2012 | 2020-05-15 |
OMIA 000319-9685 | Ears, folded (drop vs prick) | Felis catus | domestic cat | TRPV4 | 2016 | 2022-05-22 |
OMIA 002325-9685 | Encephalopathy, ASPA-related | Felis catus | domestic cat | 2021 | 2021-04-14 | |
OMIA 002526-9685 | Enteropathy-associated T cell lymphoma, inducer of | Felis catus | domestic cat | STAT5B | 2021 | 2022-02-03 |
OMIA 002281-9685 | Epidermolysis bullosa, simplex, KRT14-related | Felis catus | domestic cat | KRT14 | 2020 | 2020-07-16 |
OMIA 000364-9685 | Factor XII deficiency | Felis catus | domestic cat | F12 | 2015 | 2021-09-17 |
OMIA 001580-9685 | Feet, white (gloving) | Felis catus | domestic cat | KIT | 2010 | 2021-01-09 |
OMIA 000388-9685 | Fibrodysplasia ossificans | Felis catus | domestic cat | ACVR1 | 2019 | 2019-04-25 |
OMIA 002366-9685 | Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related | Felis catus | domestic cat | GDF7 | 2020 | 2021-07-11 |
OMIA 000402-9685 | Gangliosidosis, GM1 | Felis catus | domestic cat | GLB1 | 2008 | 2016-11-09 |
OMIA 001427-9685 | Gangliosidosis, GM2, GM2A deficiency | Felis catus | domestic cat | GM2A | 2005 | 2013-05-29 |
OMIA 001462-9685 | Gangliosidosis, GM2, type II (Sandhoff or variant 0) | Felis catus | domestic cat | HEXB | 1994 | 2022-02-23 |
OMIA 002017-9685 | Glaucoma 3, primary congenital | Felis catus | domestic cat | LTBP2 | 2016 | 2016-05-27 |
OMIA 000420-9685 | Glycogen storage disease IV | Felis catus | domestic cat | GBE1 | 2007 | 2011-12-09 |
OMIA 000438-9685 | Haemophilia B | Felis catus | domestic cat | F9 | 2005 | 2022-06-02 |
OMIA 002452-9685 | Hair shaft dysplasia, DSG4-related | Felis catus | domestic cat | DSG4 | 2021 | 2022-05-24 |
OMIA 000439-9685 | Hair, long | Felis catus | domestic cat | FGF5 | 2007 | 2021-10-22 |
OMIA 001210-9685 | Hyperlipoproteinaemia | Felis catus | domestic cat | LPL | 1996 | 2012-09-03 |
OMIA 000821-9685 | Hyperoxaluria, primary, type II (Oxalosis II) | Felis catus | domestic cat | GRHPR | 2009 | 2021-09-13 |
OMIA 002219-9685 | Hypogonadotropic hypogonadism, TAC3-related | Felis catus | domestic cat | TAC3 | 2019 | 2021-09-17 |
OMIA 001759-9685 | Hypokalaemic periodic paralysis | Felis catus | domestic cat | WNK4 | 2012 | 2021-09-17 |
OMIA 000536-9685 | Hypothyroidism, congenital | Felis catus | domestic cat | TPO | 2015 | 2022-05-22 |
OMIA 002229-9685 | Hypotrichosis, HR-related | Felis catus | domestic cat | HRhairless | 2020 | 2021-06-16 |
OMIA 001949-9685 | Hypotrichosis, with short life expectancy | Felis catus | domestic cat | FOXN1 | 2015 | 2015-03-24 |
OMIA 001583-9685 | Hypotrichosis, with whiskers short and curled | Felis catus | domestic cat | KRT71 | 2010 | 2013-06-18 |
OMIA 001371-9685 | L-2-hydroxyglutaricacidemia | Felis catus | domestic cat | L2HGDH | 2021 | 2021-06-10 |
OMIA 001222-9685 | Leber congenital amaurosis | Felis catus | domestic cat | AIPL1 | 2016 | 2021-06-16 |
OMIA 000595-9685 | Leukocyte adhesion deficiency, type I | Felis catus | domestic cat | ITGB2 | 2017 | 2017-08-04 |
OMIA 000625-9685 | Mannosidosis, alpha | Felis catus | domestic cat | MAN2B1 | 1997 | 2022-02-23 |
OMIA 002131-9685 | Methaemoglobinaemia, CYB5R3-related | Felis catus | domestic cat | CYB5R3 | 2019 | 2020-02-03 |
OMIA 001248-9685 | Mucolipidosis II | Felis catus | domestic cat | GNPTAB | 2018 | 2019-03-02 |
OMIA 000664-9685 | Mucopolysaccharidosis I | Felis catus | domestic cat | IDUA | 1999 | 2012-09-15 |
OMIA 000666-9685 | Mucopolysaccharidosis VI | Felis catus | domestic cat | ARSB | 1996 | 2021-06-16 |
OMIA 000667-9685 | Mucopolysaccharidosis VII | Felis catus | domestic cat | GUSB | 1999 | 2015-12-31 |
OMIA 001402-9685 | Multidrug resistance 1, ABCB1-related | Felis catus | domestic cat | ABCB1 | 2015 | 2022-02-19 |
OMIA 001457-9685 | Multiple acyl-CoA dehydrogenase deficiency | Felis catus | domestic cat | ETFDH | 2014 | 2022-03-31 |
OMIA 001081-9685 | Muscular dystrophy, Duchenne type | Felis catus | domestic cat | DMD | 1994 | 2020-06-04 |
OMIA 001621-9685 | Muscular dystrophy-dystroglycanopathy (limb-girdle) | Felis catus | domestic cat | COLQ | 2015 | 2021-01-09 |
OMIA 000698-9685 | Myotonia | Felis catus | domestic cat | CLCN1 | 2014 | 2015-12-31 |
OMIA 001443-9685 | Neuronal ceroid lipofuscinosis, 6 | Felis catus | domestic cat | CLN6 | 2020 | 2021-09-07 |
OMIA 001962-9685 | Neuronal ceroid lipofuscinosis, 7 | Felis catus | domestic cat | MFSD8 | 2019 | 2020-01-28 |
OMIA 001795-9685 | Niemann-Pick disease, type A | Felis catus | domestic cat | SMPD1 | 2020 | 2020-05-14 |
OMIA 000725-9685 | Niemann-Pick disease, type C1 | Felis catus | domestic cat | NPC1 | 2003 | 2017-05-20 |
OMIA 002065-9685 | Niemann-Pick disease, type C2 | Felis catus | domestic cat | NPC2 | 2014 | 2016-10-29 |
OMIA 002554-9685 | Osteochondromatosis, EXT1-related | Felis catus | domestic cat | EXT1 | 2022 | 2022-06-28 |
OMIA 002533-9685 | Osteogenesis imperfecta, CREB3L1-elated | Felis catus | domestic cat | CREB3L1 | 2022 | 2022-02-25 |
OMIA 000807-9685 | Polycystic kidney disease | Felis catus | domestic cat | PKD1 | 2004 | 2022-05-21 |
OMIA 002525-9685 | Polycystic kidney disease-2 | Felis catus | domestic cat | PKD2 | 2021 | 2022-02-03 |
OMIA 000810-9685 | Polydactyly | Felis catus | domestic cat | SHH | 2008 | 2022-02-26 |
OMIA 001493-9685 | Porphyria, acute intermittent | Felis catus | domestic cat | HMBS | 2010 | 2013-11-22 |
OMIA 001175-9685 | Porphyria, congenital erythropoietic | Felis catus | domestic cat | UROS | 2010 | 2021-09-17 |
OMIA 002267-9685 | Progressive retinal atrophy, KIF3B-related | Felis catus | domestic cat | KIF3B | 2020 | 2020-05-14 |
OMIA 000844-9685 | Pyruvate kinase deficiency of erythrocyte | Felis catus | domestic cat | PKLR | 1997 | 2021-09-17 |
OMIA 001694-9685 | Resistance/susceptibility to lentivirus | Felis catus | domestic cat | APOBEC3C | 2016 | 2020-05-15 |
OMIA 001244-9685 | Retinal degeneration II | Felis catus | domestic cat | CEP290 | 2007 | 2021-09-17 |
OMIA 002469-9685 | Retinopathy, RDH5-related | Felis catus | domestic cat | RDH5 | 2021 | 2021-11-04 |
OMIA 000881-9685 | Rod-cone dysplasia | Felis catus | domestic cat | CRX | 2010 | 2021-08-26 |
OMIA 002485-9685 | Skeletal dysplasia, LTBP3-related | Felis catus | domestic cat | LTBP3 | 2021 | 2021-12-14 |
OMIA 002389-9685 | Spinal muscular atrophy, LIX1-related | Felis catus | domestic cat | LIX1 | 2006 | 2022-04-23 |
OMIA 001617-9685 | Sweet taste, lack of | Felis catus | domestic cat | TAS1R2 | 2005 | 2012-12-03 |
OMIA 000975-9685 | Tail, short | Felis catus | domestic cat | T | 2013 | 2021-06-16 |
OMIA 001987-9685 | Tail, short and kinked (Japanese bobtail) | Felis catus | domestic cat | HES7 | 2016 | 2022-05-22 |
OMIA 001000-9685 | Thrombasthenia | Felis catus | domestic cat | ITGA2B | 2020 | 2020-10-02 |
OMIA 002117-9685 | Verrucous epidermal keratinocytic nevi | Felis catus | domestic cat | NSDHL | 2019 | 2020-11-11 |
OMIA 000837-9685 | Vitamin D-deficiency rickets, type IA | Felis catus | domestic cat | CYP27B1 | 2009 | 2012-12-07 |
OMIA 002221-9685 | Vitamin D-deficiency rickets, type IB | Felis catus | domestic cat | LOC101093889 | 2019 | 2022-02-26 |
OMIA 001071-9685 | Wilson disease | Felis catus | domestic cat | ATP7B | 2019 | 2021-09-17 |