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123 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 000593-9685Acrodermatitis enteropathicaFelis catusdomestic cat SLC39A4 2021 2021-10-03
OMIA 001661-9685Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiencyFelis catusdomestic cat CYP11B1 2012 2021-08-22
OMIA 000991-9685Androgen insensitivity syndrome (AIS)Felis catusdomestic cat 2011-09-07
OMIA 002064-9685Autoimmune lymphoproliferative syndromeFelis catusdomestic cat FASLG 2017 2017-09-14
OMIA 000119-9685Blood group system ABFelis catusdomestic cat CMAH 2007 2021-11-25
OMIA 001551-9685BrachycephalyFelis catusdomestic cat ALX1 2016 2020-06-11
OMIA 000515-9685Cardiomyopathy, hypertrophicFelis catusdomestic cat MYBPC3 2005 2021-12-01
OMIA 002316-9685Cardiomyopathy, hypertrophic, ALMS1-relatedFelis catusdomestic cat ALMS1 2021 2021-03-05
OMIA 002212-9685Cardiomyopathy, hypertrophic, MYH7-relatedFelis catusdomestic cat MYH7 2019 2021-06-17
OMIA 002304-9685Cardiomyopathy, hypertrophic, TNNT2-relatedFelis catusdomestic cat TNNT2 2020 2020-12-18
OMIA 000169-9685Catnip responseFelis catusdomestic cat 2011-01-27
OMIA 001221-9685Cerebellar degenerationFelis catusdomestic cat 2005-09-06
OMIA 002303-9685Cerebral dysgenesis, PEA15 relatedFelis catusdomestic cat PEA15 2020 2020-12-17
OMIA 000185-9685Chediak-Higashi syndromeFelis catusdomestic cat LYST 2020 2020-01-27
OMIA 000187-9685ChondrodysplasiaFelis catusdomestic cat UGDH 2020 2021-06-17
OMIA 000201-9685Coat colour, agoutiFelis catusdomestic cat ASIP 2003 2021-06-16
OMIA 001249-9685Coat colour, brown, TYRP1-relatedFelis catusdomestic cat TYRP1 2005 2021-06-16
OMIA 000031-9685Coat colour, dilution, MLPH-relatedFelis catusdomestic cat MLPH 2006 2018-09-13
OMIA 000209-9685Coat colour, dominant whiteFelis catusdomestic cat KIT 2014 2015-04-16
OMIA 001199-9685Coat colour, extensionFelis catusdomestic cat MC1R 2009 2020-06-12
OMIA 002159-9685Coat colour, goldenFelis catusdomestic cat CORIN 2021 2021-05-14
OMIA 001584-9685Coat colour, melanin inhibitorFelis catusdomestic cat 2011-07-20
OMIA 000202-9685Coat colour, oculocutaneous albinism type I (OCA1), TYR-relatedFelis catusdomestic cat TYR 2005 2019-02-08
OMIA 001201-9685Coat colour, orangeFelis catusdomestic cat 2012-06-07
OMIA 001438-9685Coat colour, silverFelis catusdomestic cat 2009-07-01
OMIA 001429-9685Coat colour, tabbyFelis catusdomestic cat LVRN 2012 2016-08-31
OMIA 001484-9685Coat colour, ticked (Abyssinian)Felis catusdomestic cat DKK4 2021 2021-11-17
OMIA 000214-9685Coat colour, white spottingFelis catusdomestic cat 2017-03-14
OMIA 001737-9685Coat colour, white spotting, KIT-relatedFelis catusdomestic cat KIT 2014 2020-05-15
OMIA 000244-9685CurlFelis catusdomestic cat 2020-08-20
OMIA 000245-9685Curly coatFelis catusdomestic cat 2011-07-20
OMIA 001581-9685Curly coat, Devon rexFelis catusdomestic cat KRT71 2010 2014-05-30
OMIA 001582-9685Curly coat, Oregon rexFelis catusdomestic cat 2011-07-20
OMIA 001712-9685Curly coat, Selkirk rexFelis catusdomestic cat KRT71 2013 2013-06-20
OMIA 002273-9685Curly coat, Ural RexFelis catusdomestic cat LIPH 2020 2020-06-02
OMIA 001684-9685Curly/woolly coat, Cornish Rex and German RexFelis catusdomestic cat LPAR6 2013 2021-06-16
OMIA 002023-9685Cystinuria, type BFelis catusdomestic cat SLC7A9 2016 2017-09-01
OMIA 000256-9685Cystinuria, type I - AFelis catusdomestic cat SLC3A1 2014 2016-08-04
OMIA 001587-9685Deficiency of cytosolic arylamine N-acetylationFelis catusdomestic cat 1998 2020-04-16
OMIA 001586-9685Deficient acetaminophen glucuronidationFelis catusdomestic cat UGT1A6 2000 2012-09-17
OMIA 001776-9685Dihydropyrimidinase deficiencyFelis catusdomestic cat DPYS 2012 2020-05-15
OMIA 000319-9685Ears, folded (drop vs prick)Felis catusdomestic cat TRPV4 2016 2021-08-22
OMIA 000320-9685Ears, fourFelis catusdomestic cat 2011-10-03
OMIA 000327-9685Ehlers-Danlos syndromeFelis catusdomestic cat 2018-05-28
OMIA 002165-9685Ehlers-Danlos syndrome, classic type, 1Felis catusdomestic cat COL5A1 2018 2019-02-11
OMIA 000328-9685Ehlers-Danlos syndrome, type VII (Dermatosparaxis)Felis catusdomestic cat 2005-07-16
OMIA 002325-9685Encephalopathy, ASPA-relatedFelis catusdomestic cat 2021 2021-04-14
OMIA 002281-9685Epidermolysis bullosa, simplex, KRT14-relatedFelis catusdomestic cat KRT14 2020 2020-07-16
OMIA 000348-9685Epitheliogenesis imperfectaFelis catusdomestic cat 2005-09-06
OMIA 000364-9685Factor XII deficiencyFelis catusdomestic cat F12 2015 2021-09-17
OMIA 001580-9685Feet, white (gloving)Felis catusdomestic cat KIT 2010 2021-01-09
OMIA 000388-9685Fibrodysplasia ossificansFelis catusdomestic cat ACVR1 2019 2019-04-25
OMIA 002366-9685Forebrain commissural malformation, ventriculomegaly and interhemispheric cysts, GDF7-relatedFelis catusdomestic cat GDF7 2020 2021-07-11
OMIA 000396-9685Fucosidosis, alphaFelis catusdomestic cat 2005-09-06
OMIA 000402-9685Gangliosidosis, GM1Felis catusdomestic cat GLB1 2008 2016-11-09
OMIA 000403-9685Gangliosidosis, GM2, genericFelis catusdomestic cat 2008-09-20
OMIA 001427-9685Gangliosidosis, GM2, GM2A deficiencyFelis catusdomestic cat GM2A 2005 2013-05-29
OMIA 001462-9685Gangliosidosis, GM2, type II (Sandhoff or variant 0)Felis catusdomestic cat HEXB 1994 2021-09-10
OMIA 002017-9685Glaucoma 3, primary congenitalFelis catusdomestic cat LTBP2 2016 2016-05-27
OMIA 000416-9685Glucose-6-phosphate dehydrogenase deficiencyFelis catusdomestic cat 2005-09-06
OMIA 000419-9685Glycogen storage disease IIFelis catusdomestic cat 2005-09-06
OMIA 000420-9685Glycogen storage disease IVFelis catusdomestic cat GBE1 2007 2011-12-09
OMIA 000437-9685Haemophilia AFelis catusdomestic cat 2013-08-29
OMIA 000438-9685Haemophilia BFelis catusdomestic cat F9 2005 2012-12-03
OMIA 002452-9685Hair shaft dysplasia, DSG4-relatedFelis catusdomestic cat 2021-10-19
OMIA 000439-9685Hair, longFelis catusdomestic cat FGF5 2007 2021-10-22
OMIA 001210-9685HyperlipoproteinaemiaFelis catusdomestic cat LPL 1996 2012-09-03
OMIA 000821-9685Hyperoxaluria, primary, type II (Oxalosis II)Felis catusdomestic cat GRHPR 2009 2021-09-13
OMIA 002219-9685Hypogonadotropic hypogonadism, TAC3-relatedFelis catusdomestic cat TAC3 2019 2021-09-17
OMIA 001759-9685Hypokalaemic periodic paralysisFelis catusdomestic cat WNK4 2012 2021-09-17
OMIA 000536-9685Hypothyroidism, congenitalFelis catusdomestic cat TPO 2015 2015-01-29
OMIA 000538-9685Hypothyroidism, primaryFelis catusdomestic cat 2011-09-11
OMIA 001866-9685Hypotrichosis, Don SphynxFelis catusdomestic cat 2013-08-08
OMIA 002229-9685Hypotrichosis, HR-relatedFelis catusdomestic cat HRhairless 2020 2021-06-16
OMIA 001949-9685Hypotrichosis, with short life expectancyFelis catusdomestic cat FOXN1 2015 2015-03-24
OMIA 001583-9685Hypotrichosis, with whiskers short and curledFelis catusdomestic cat KRT71 2010 2013-06-18
OMIA 000578-9685Krabbe diseaseFelis catusdomestic cat 2005-09-06
OMIA 001371-9685L-2-hydroxyglutaricacidemiaFelis catusdomestic cat L2HGDH 2021 2021-06-10
OMIA 001222-9685Leber congenital amaurosisFelis catusdomestic cat AIPL1 2016 2021-06-16
OMIA 000588-9685Lens luxationFelis catusdomestic cat 2011-10-23
OMIA 000595-9685Leukocyte adhesion deficiency, type IFelis catusdomestic cat ITGB2 2017 2017-08-04
OMIA 000625-9685Mannosidosis, alphaFelis catusdomestic cat MAN2B1 1997 2020-05-21
OMIA 002131-9685Methaemoglobinaemia, CYB5R3-relatedFelis catusdomestic cat CYB5R3 2019 2020-02-03
OMIA 001248-9685Mucolipidosis IIFelis catusdomestic cat GNPTAB 2018 2019-03-02
OMIA 000664-9685Mucopolysaccharidosis IFelis catusdomestic cat IDUA 1999 2012-09-15
OMIA 000666-9685Mucopolysaccharidosis VIFelis catusdomestic cat ARSB 1996 2021-06-16
OMIA 000667-9685Mucopolysaccharidosis VIIFelis catusdomestic cat GUSB 1999 2015-12-31
OMIA 001402-9685Multidrug resistance 1Felis catusdomestic cat 2015 2021-06-18
OMIA 001619-9685Muscular dystrophy, congenital merosin-deficientFelis catusdomestic cat 2011-10-07
OMIA 001081-9685Muscular dystrophy, Duchenne typeFelis catusdomestic cat DMD 1994 2020-06-04
OMIA 001621-9685Muscular dystrophy-dystroglycanopathy (limb-girdle)Felis catusdomestic cat COLQ 2015 2021-01-09
OMIA 000698-9685MyotoniaFelis catusdomestic cat CLCN1 2014 2015-12-31
OMIA 001443-9685Neuronal ceroid lipofuscinosis, 6Felis catusdomestic cat CLN6 2020 2021-09-07
OMIA 001962-9685Neuronal ceroid lipofuscinosis, 7Felis catusdomestic cat MFSD8 2019 2020-01-28
OMIA 001795-9685Niemann-Pick disease, type AFelis catusdomestic cat SMPD1 2020 2020-05-14
OMIA 000725-9685Niemann-Pick disease, type C1Felis catusdomestic cat NPC1 2003 2017-05-20
OMIA 002065-9685Niemann-Pick disease, type C2Felis catusdomestic cat NPC2 2014 2016-10-29
OMIA 001315-9685OsteochondrodysplasiaFelis catusdomestic cat 2017-06-16
OMIA 000753-9685OsteodystrophyFelis catusdomestic cat 2005-09-06
OMIA 000807-9685Polycystic kidney diseaseFelis catusdomestic cat PKD1 2004 2021-09-15
OMIA 000810-9685PolydactylyFelis catusdomestic cat sSHH, LMBR1 2008 2021-08-31
OMIA 001493-9685Porphyria, acute intermittentFelis catusdomestic cat HMBS 2010 2013-11-22
OMIA 001175-9685Porphyria, congenital erythropoieticFelis catusdomestic cat UROS 2010 2021-09-17
OMIA 000815-9685Porphyria, unclassifiedFelis catusdomestic cat 2005-09-06
OMIA 002267-9685Progressive retinal atrophy, KIF3B-relatedFelis catusdomestic cat KIF3B 2020 2020-05-14
OMIA 000844-9685Pyruvate kinase deficiency of erythrocyteFelis catusdomestic cat PKLR 1997 2021-09-17
OMIA 001694-9685Resistance/susceptibility to lentivirusFelis catusdomestic cat APOBEC3C 2016 2020-05-15
OMIA 001244-9685Retinal degeneration IIFelis catusdomestic cat CEP290 2007 2021-09-17
OMIA 001613-9685Retinal dystrophy, early onset, BengalFelis catusdomestic cat 2013-01-31
OMIA 002469-9685Retinopathy, RDH5-relatedFelis catusdomestic cat RDH5 2021 2021-11-04
OMIA 000881-9685Rod-cone dysplasiaFelis catusdomestic cat CRX 2010 2021-08-26
OMIA 002389-9685Spinal muscular atrophy, LIX1-relatedFelis catusdomestic cat LIX1 2006 2021-08-19
OMIA 001617-9685Sweet taste, lack ofFelis catusdomestic cat TAS1R2 2005 2012-12-03
OMIA 000975-9685Tail, shortFelis catusdomestic cat T 2013 2021-06-16
OMIA 001987-9685Tail, short and kinked (Japanese bobtail)Felis catusdomestic cat HES7 2016 2021-06-16
OMIA 001000-9685ThrombastheniaFelis catusdomestic cat ITGA2B 2020 2020-10-02
OMIA 002117-9685Verrucous epidermal keratinocytic neviFelis catusdomestic cat NSDHL 2019 2020-11-11
OMIA 000837-9685Vitamin D-deficiency rickets, type IAFelis catusdomestic cat CYP27B1 2009 2012-12-07
OMIA 002221-9685Vitamin D-deficiency rickets, type IBFelis catusdomestic cat LOC101093889 2019 2021-06-16
OMIA 001054-9685Vitamin-K-dependent blood coagulation factors deficiencyFelis catusdomestic cat 2005-09-06
OMIA 001058-9685Von Willebrand disease IIIFelis catusdomestic cat 2013-04-23
OMIA 001056-9685Von Willebrand disease, genericFelis catusdomestic cat 2013-04-23
OMIA 001071-9685Wilson diseaseFelis catusdomestic cat ATP7B 2019 2021-09-17