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115 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: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 2023-08-26
OMIA:002316-9685 Cardiomyopathy, hypertrophic, ALMS1-related Felis catus domestic cat ALMS1 2021 2023-06-23
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 2022-06-02
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 2023-08-21
OMIA:002116-9685 Coat colour, albinism, oculocutaneous, HPS5-related Felis catus domestic cat HPS5 2020 2022-01-31
OMIA:000202-9685 Coat colour, oculocutaneous albinism type I (OCA1), TYR-related Felis catus domestic cat TYR 2005 2019-02-08
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 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 2024-02-08
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 2022-09-17
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:000403-9685 Gangliosidosis, GM2, generic Felis catus domestic cat 2008-09-20
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 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 2023-06-04
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 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 2023-11-10
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 2023 2023-11-03
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 2024-01-16
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 2024-04-15
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 2021-01-09
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 2023-07-26
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 2023-11-10
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 2023-06-04
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 2023-05-08
OMIA:001244-9685 Retinal degeneration II Felis catus domestic cat CEP290 2007 2023-04-06
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 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 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