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65 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 001244-9685Retinal degeneration IIFelis catusdomestic cat CEP290 2007 2013-06-18
OMIA 001429-9685Coat colour, tabbyFelis catusdomestic cat LVRN 2012 2016-08-31
OMIA 000807-9685Polycystic kidney diseaseFelis catusdomestic cat PKD1 2004 2019-06-05
OMIA 001776-9685Dihydropyrimidinase deficiencyFelis catusdomestic cat DPYS 2012 2013-04-15
OMIA 000536-9685HypothyroidismFelis catusdomestic cat TPO 2015 2015-01-29
OMIA 001987-9685Tail, short and kinked (Japanese bobtail)Felis catusdomestic cat HES7 2016 2016-08-30
OMIA 001081-9685Muscular dystrophy, Duchenne typeFelis catusdomestic cat DMD 1994 2015-05-15
OMIA 000364-9685Factor XII deficiencyFelis catusdomestic cat F12 2015 2017-04-13
OMIA 000667-9685Mucopolysaccharidosis VIIFelis catusdomestic cat GUSB 1999 2015-12-31
OMIA 000975-9685Tail, shortFelis catusdomestic cat T 2013 2013-08-22
OMIA 000625-9685Mannosidosis, alphaFelis catusdomestic cat MAN2B1 1997 2013-05-29
OMIA 000844-9685Pyruvate kinase deficiency of erythrocyteFelis catusdomestic cat PKLR 1997 2012-11-28
OMIA 001210-9685HyperlipoproteinaemiaFelis catusdomestic cat LPL 1996 2012-09-03
OMIA 001580-9685Feet, whiteFelis catusdomestic cat

Gene not yet published

2010 2012-11-23
OMIA 000202-9685Coat colour, albinismFelis catusdomestic cat TYR 2005 2019-02-08
OMIA 001581-9685Curly coat, Devon rexFelis catusdomestic cat KRT71 2010 2014-05-30
OMIA 000209-9685Coat colour, dominant whiteFelis catusdomestic cat KIT 2014 2015-04-16
OMIA 001694-9685Resistance/susceptibility to lentivirusFelis catusdomestic cat APOBEC3C 2016 2016-06-04
OMIA 001586-9685Deficient acetaminophen glucuronidationFelis catusdomestic cat UGT1A6 2000 2012-09-17
OMIA 000031-9685Coat colour, diluteFelis catusdomestic cat MLPH 2006 2018-09-13
OMIA 002023-9685Cystinuria, type BFelis catusdomestic cat SLC7A9 2016 2017-09-01
OMIA 001737-9685Coat colour, white spotting, KIT-relatedFelis catusdomestic cat KIT 2014 2017-03-14
OMIA 001712-9685Curly coat, Selkirk rexFelis catusdomestic cat KRT71 2013 2013-06-20
OMIA 000595-9685Leukocyte adhesion deficiency, type IFelis catusdomestic cat ITGB2 2017 2017-08-04
OMIA 000666-9685Mucopolysaccharidosis VIFelis catusdomestic cat ARSB 1996 2016-08-05
OMIA 000810-9685PolydactylyFelis catusdomestic cat SHH 2008 2012-05-02
OMIA 000201-9685Coat colour, agoutiFelis catusdomestic cat ASIP 2003 2014-10-03
OMIA 001587-9685Deficiency of cytosolic arylamine N-acetylationFelis catusdomestic cat 1998 2019-04-24
OMIA 001949-9685Hypotrichosis, with short life expectancyFelis catusdomestic cat FOXN1 2015 2015-03-24
OMIA 002165-9685Ehlers-Danlos syndrome, classic type, 1Felis catusdomestic cat COL5A1 2018 2019-02-11
OMIA 000881-9685Rod-cone dysplasiaFelis catusdomestic cat CRX 2010 2019-03-22
OMIA 000402-9685Gangliosidosis, GM1Felis catusdomestic cat GLB1 2008 2016-11-09
OMIA 001462-9685Gangliosidosis, GM2, type II (Sandhoff or variant 0)Felis catusdomestic cat HEXB 1994 2013-05-29
OMIA 000725-9685Niemann-Pick disease, type C1Felis catusdomestic cat NPC1 2003 2017-05-20
OMIA 000438-9685Haemophilia BFelis catusdomestic cat F9 2005 2012-12-03
OMIA 000319-9685Ears, folded (drop vs prick)Felis catusdomestic cat TRPV4 2016 2016-04-13
OMIA 001661-9685Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiencyFelis catusdomestic cat CYP11B1 2012 2013-05-17
OMIA 001199-9685Coat colour, extensionFelis catusdomestic cat MC1R 2009 2019-08-08
OMIA 001222-9685Leber congenital amaurosisFelis catusdomestic cat AIPL1 2016 2016-04-02
OMIA 002185-9685Inflammatory linear verrucous epidermal nevus (ILVEN)Felis catusdomestic cat NSDHL 2019 2019-03-26
OMIA 000821-9685Primary hyperoxaluria type II (Oxalosis II)Felis catusdomestic cat GRHPR 2009 2013-06-18
OMIA 001617-9685Sweet taste, lack ofFelis catusdomestic cat TAS1R2 2005 2012-12-03
OMIA 000698-9685MyotoniaFelis catusdomestic cat CLCN1 2014 2015-12-31
OMIA 002017-9685Glaucoma 3, primary congenitalFelis catusdomestic cat LTBP2 2016 2016-05-27
OMIA 000420-9685Glycogen storage disease IVFelis catusdomestic cat GBE1 2007 2011-12-09
OMIA 001621-9685Muscular dystrophy-dystroglycanopathy (limb-girdle)Felis catusdomestic cat COLQ 2015 2018-01-21
OMIA 001583-9685Hypotrichosis, with whiskers short and curledFelis catusdomestic cat KRT71 2010 2013-06-18
OMIA 001249-9685Coat colour, brownFelis catusdomestic cat TYRP1 2005 2012-11-26
OMIA 001248-9685Mucolipidosis IIFelis catusdomestic cat GNPTAB 2018 2019-03-02
OMIA 000664-9685Mucopolysaccharidosis IFelis catusdomestic cat IDUA 1999 2012-09-15
OMIA 001759-9685Hypokalaemic periodic paralysisFelis catusdomestic cat WNK4 2012 2015-02-12
OMIA 000388-9685Fibrodysplasia ossificansFelis catusdomestic cat ACVR1 2019 2019-04-25
OMIA 001551-9685BrachycephalyFelis catusdomestic cat ALX1 2016 2016-05-19
OMIA 000439-9685Hair, longFelis catusdomestic cat FGF5 2007 2015-01-18
OMIA 000939-9685Spinal muscular atrophyFelis catusdomestic cat LIX1 2006 2011-12-09
OMIA 000837-9685Vitamin D-deficiency rickets, type IFelis catusdomestic cat CYP27B1 2009 2012-12-07
OMIA 000515-9685Cardiomyopathy, hypertrophicFelis catusdomestic cat MYBPC3 2005 2014-03-31
OMIA 002064-9685Autoimmune lymphoproliferative syndromeFelis catusdomestic cat FASLG 2017 2017-09-14
OMIA 002065-9685Niemann-Pick disease, type C2Felis catusdomestic cat NPC2 2014 2016-10-29
OMIA 000256-9685Cystinuria, type I - AFelis catusdomestic cat SLC3A1 2014 2016-08-04
OMIA 000119-9685Blood group system ABFelis catusdomestic cat CMAH 2007 2019-03-30
OMIA 001427-9685Gangliosidosis, GM2, GM2A deficiencyFelis catusdomestic cat GM2A 2005 2013-05-29
OMIA 001175-9685Porphyria, congenital erythropoieticFelis catusdomestic cat UROS 2010 2013-06-18
OMIA 001493-9685Porphyria, acute intermittentFelis catusdomestic cat HMBS 2010 2013-11-22
OMIA 001684-9685Curly/woolly coat, Cornish Rex and German RexFelis catusdomestic cat LPAR6 2013 2013-07-22