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117 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 | 2023-09-28 |
OMIA:000991-9685 | Androgen insensitivity syndrome (AIS) | Felis catus | domestic cat | 2011-09-07 | ||
OMIA:001688-9685 | Auditory-pigmentary syndrome, PAX3-related | Felis catus | domestic cat | PAX3 | 2024 | 2024-09-06 |
OMIA:002064-9685 | Autoimmune lymphoproliferative syndrome | Felis catus | domestic cat | FASLG | 2017 | 2022-05-22 |
OMIA:000515-9685 | Cardiomyopathy, hypertrophic | Felis catus | domestic cat | MYBPC3 | 2005 | 2024-06-21 |
OMIA:002316-9685 | Cardiomyopathy, hypertrophic, ALMS1-related | Felis catus | domestic cat | ALMS1 | 2021 | 2024-09-30 |
OMIA:002212-9685 | Cardiomyopathy, hypertrophic, MYH7-related | Felis catus | domestic cat | MYH7 | 2019 | 2023-05-04 |
OMIA:002304-9685 | Cardiomyopathy, hypertrophic, TNNT2-related | Felis catus | domestic cat | 2024-06-25 | ||
OMIA:001221-9685 | Cerebellar degeneration | Felis catus | domestic cat | 2022-06-03 | ||
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 | 2024-05-17 |
OMIA:002116-9685 | Coat colour, albinism, oculocutaneous, HPS5-related | Felis catus | domestic cat | HPS5 | 2020 | 2022-01-31 |
OMIA:000202-9685 | Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related | Felis catus | domestic cat | TYR | 2005 | 2024-06-21 |
OMIA:002023-9685 | Cystinuria, type B | Felis catus | domestic cat | SLC7A9 | 2016 | 2024-06-21 |
OMIA:000256-9685 | Cystinuria, type I - A | Felis catus | domestic cat | SLC3A1 | 2014 | 2023-05-18 |
OMIA:001586-9685 | Deficient acetaminophen glucuronidation | Felis catus | domestic cat | UGT1A6 | 2000 | 2012-09-17 |
OMIA:000328-9685 | Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related | Felis catus | domestic cat | ADAMTS2 | 2023 | 2023-07-20 |
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 | 2024-06-21 |
OMIA:000320-9685 | Ears, four | Felis catus | domestic cat | 2011-10-03 | ||
OMIA:000327-9685 | Ehlers-Danlos syndrome, generic | Felis catus | domestic cat | 2018-05-28 | ||
OMIA:002325-9685 | Encephalopathy, ASPA-related | Felis catus | domestic cat | ASPA | 2021 | 2023-12-14 |
OMIA:002526-9685 | Enteropathy-associated T cell lymphoma, inducer of | Felis catus | domestic cat | STAT5B | 2021 | 2023-05-27 |
OMIA:002793-9685 | Epidermolysis bullosa, junctionalis, COL17A1-related | Felis catus | domestic cat | COL17A1 | 2023 | 2023-11-03 |
OMIA:002281-9685 | Epidermolysis bullosa, simplex, KRT14-related | Felis catus | domestic cat | KRT14 | 2020 | 2020-07-16 |
OMIA:000348-9685 | Epitheliogenesis imperfecta | Felis catus | domestic cat | 2005-09-06 | ||
OMIA:000363-9685 | Factor XI deficiency | Felis catus | domestic cat | F11 | 2022 | 2023-05-02 |
OMIA:000364-9685 | Factor XII deficiency | Felis catus | domestic cat | F12 | 2015 | 2024-06-21 |
OMIA:000388-9685 | Fibrodysplasia ossificans | Felis catus | domestic cat | ACVR1 | 2019 | 2023-02-03 |
OMIA:002366-9685 | Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-related | Felis catus | domestic cat | GDF7 | 2020 | 2021-07-11 |
OMIA:002717-9685 | Frontonasal dysplasia, ALX1-related | Felis catus | domestic cat | ALX1 | 2016 | 2023-06-13 |
OMIA:000396-9685 | Fucosidosis, alpha | Felis catus | domestic cat | 2005-09-06 | ||
OMIA:000402-9685 | Gangliosidosis, GM1 | Felis catus | domestic cat | GLB1 | 2008 | 2023-06-04 |
OMIA:001427-9685 | Gangliosidosis, GM2, (AB variant), GM2A-related | Felis catus | domestic cat | GM2A | 2005 | 2024-06-19 |
OMIA:000403-9685 | Gangliosidosis, GM2, generic | Felis catus | domestic cat | 2008-09-20 | ||
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 | 2023-05-27 |
OMIA:000416-9685 | Glucose-6-phosphate dehydrogenase deficiency | Felis catus | domestic cat | 2005-09-06 | ||
OMIA:000419-9685 | Glycogen storage disease II | Felis catus | domestic cat | GAA | 2023 | 2023-04-14 |
OMIA:000420-9685 | Glycogen storage disease IV | Felis catus | domestic cat | GBE1 | 2007 | 2023-05-27 |
OMIA:000437-9685 | Haemophilia A | Felis catus | domestic cat | 2013-08-29 | ||
OMIA:000438-9685 | Haemophilia B | Felis catus | domestic cat | F9 | 2005 | 2024-02-09 |
OMIA:002452-9685 | Hair shaft dysplasia, DSG4-related | Felis catus | domestic cat | DSG4 | 2021 | 2022-05-24 |
OMIA:002225-9685 | Hemimelia, radial | Felis catus | domestic cat | 2023-10-09 | ||
OMIA:001210-9685 | Hyperlipoproteinaemia | Felis catus | domestic cat | LPL | 1996 | 2024-06-21 |
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:000543-9685 | Hypohidrotic ectodermal dysplasia, X-linked, EDA-related | Felis catus | domestic cat | EDA | 2024 | 2024-07-28 |
OMIA:001759-9685 | Hypokalaemic periodic paralysis | Felis catus | domestic cat | WNK4 | 2012 | 2022-09-17 |
OMIA:000536-9685 | Hypothyroidism, congenital | Felis catus | domestic cat | TPO | 2015 | 2022-09-11 |
OMIA:000538-9685 | Hypothyroidism, primary | Felis catus | domestic cat | 2011-09-11 | ||
OMIA:001866-9685 | Hypotrichosis, Don Sphynx | Felis catus | domestic cat | 2013-08-08 | ||
OMIA:002229-9685 | Hypotrichosis, HR-related | Felis catus | domestic cat | HR | 2020 | 2021-06-16 |
OMIA:001949-9685 | Hypotrichosis, with thymic aplasia | Felis catus | domestic cat | FOXN1 | 2015 | 2023-05-02 |
OMIA:001583-9685 | Hypotrichosis, with whiskers short and curled | Felis catus | domestic cat | KRT71 | 2010 | 2024-06-21 |
OMIA:000578-9685 | Krabbe disease | Felis catus | domestic cat | 2005-09-06 | ||
OMIA:001371-9685 | L-2-hydroxyglutaricacidemia | Felis catus | domestic cat | L2HGDH | 2021 | 2023-03-23 |
OMIA:001222-9685 | Leber congenital amaurosis | Felis catus | domestic cat | AIPL1 | 2016 | 2021-06-16 |
OMIA:000588-9685 | Lens luxation | Felis catus | domestic cat | 2011-10-23 | ||
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:000626-9685 | Mannosidosis, beta | Felis catus | domestic cat | MANBA | 2024 | 2024-07-30 |
OMIA:002131-9685 | Methaemoglobinaemia, CYB5R3-related | Felis catus | domestic cat | CYB5R3 | 2019 | 2023-04-22 |
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 | 2022-09-12 |
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 | 2024-06-21 |
OMIA:001457-9685 | Multiple acyl-CoA dehydrogenase deficiency | Felis catus | domestic cat | ETFDH | 2014 | 2022-03-31 |
OMIA:001888-9685 | Muscular dystrophy, Becker type | Felis catus | domestic cat | DMD | 2023 | 2024-09-06 |
OMIA:001619-9685 | Muscular dystrophy, congenital merosin-deficient | Felis catus | domestic cat | 2011-10-07 | ||
OMIA:001081-9685 | Muscular dystrophy, Duchenne type | Felis catus | domestic cat | DMD | 1994 | 2024-01-11 |
OMIA:001621-9685 | Muscular dystrophy-dystroglycanopathy (limb-girdle) | Felis catus | domestic cat | COLQ | 2015 | 2024-06-21 |
OMIA:000698-9685 | Myotonia | Felis catus | domestic cat | CLCN1 | 2014 | 2023-09-07 |
OMIA:001508-9685 | Myotubular myopathy 1 | Felis catus | domestic cat | MTM1 | 2022 | 2022-08-15 |
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 | 2023-06-04 |
OMIA:002065-9685 | Niemann-Pick disease, type C2 | Felis catus | domestic cat | NPC2 | 2014 | 2023-05-27 |
OMIA:001315-9685 | Osteochondrodysplasia | Felis catus | domestic cat | 2022-05-22 | ||
OMIA:002554-9685 | Osteochondromatosis, EXT1-related | Felis catus | domestic cat | EXT1 | 2022 | 2023-11-10 |
OMIA:000753-9685 | Osteodystrophy | Felis catus | domestic cat | 2005-09-06 | ||
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 | 2024-11-06 |
OMIA:002525-9685 | Polycystic kidney disease-2 | Felis catus | domestic cat | PKD2 | 2021 | 2023-06-13 |
OMIA:000810-9685 | Polydactyly | Felis catus | domestic cat | SHH, LMBR1 | 2008 | 2024-06-21 |
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:000815-9685 | Porphyria, unclassified | Felis catus | domestic cat | 2005-09-06 | ||
OMIA:002607-9685 | Pyknodysostosis | Felis catus | domestic cat | CTSK | 2022 | 2023-01-09 |
OMIA:000844-9685 | Pyruvate kinase deficiency of erythrocyte | Felis catus | domestic cat | PKLR | 1997 | 2024-06-21 |
OMIA:001694-9685 | Resistance/susceptibility to lentivirus | Felis catus | domestic cat | APOBEC3C | 2016 | 2023-10-16 |
OMIA:000881-9685 | Retinal atrophy - Rod-cone dysplasia, CRX related | Felis catus | domestic cat | CRX | 2010 | 2023-06-25 |
OMIA:002267-9685 | Retinal atrophy, progressive, KIF3B-related | Felis catus | domestic cat | KIF3B | 2020 | 2024-06-21 |
OMIA:001244-9685 | Retinal degeneration II | Felis catus | domestic cat | CEP290 | 2007 | 2024-06-21 |
OMIA:001613-9685 | Retinal dystrophy, early onset, Bengal | Felis catus | domestic cat | 2013-01-31 | ||
OMIA:002469-9685 | Retinopathy, RDH5-related | Felis catus | domestic cat | RDH5 | 2021 | 2021-11-04 |
OMIA:002669-9685 | Sebaceous gland dysplasia, SOAT1-related | Felis catus | domestic cat | SOAT1 | 2023 | 2023-04-21 |
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 | 2024-06-21 |
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 | TBXT | 2013 | 2023-11-10 |
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 | 2022-11-23 |
OMIA:000837-9685 | Vitamin D-deficiency rickets, type IA | Felis catus | domestic cat | CYP27B1 | 2009 | 2023-05-19 |
OMIA:002221-9685 | Vitamin D-deficiency rickets, type IB | Felis catus | domestic cat | CYP2R1 | 2019 | 2022-02-26 |
OMIA:001431-9685 | Vitamin D-deficiency rickets, type II | Felis catus | domestic cat | VDR | 2023 | 2023-07-01 |
OMIA:001054-9685 | Vitamin-K-dependent blood coagulation factors deficiency | Felis catus | domestic cat | 2005-09-06 | ||
OMIA:001058-9685 | Von Willebrand disease III | Felis catus | domestic cat | 2022-04-23 | ||
OMIA:001056-9685 | Von Willebrand disease, generic | Felis catus | domestic cat | 2022-04-23 | ||
OMIA:001071-9685 | Wilson disease | Felis catus | domestic cat | ATP7B | 2019 | 2023-07-22 |
OMIA:002445-9685 | Xanthinuria, type I | Felis catus | domestic cat | XDH | 2023 | 2023-06-05 |