Search Results

Advanced search

211 phene records found

[show instead gene records]

By default, tables are sorted chronologically by Date Last Modified.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order.

To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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 000175-9685Cerebellar abiotrophyFelis catusdomestic cat 2005-09-06
OMIA 001203-9685Budd-chiari syndromeFelis catusdomestic cat 2005-09-06
OMIA 001102-9685Situs inversusFelis catusdomestic cat 2005-09-06
OMIA 001081-9685Muscular dystrophy, Duchenne typeFelis catusdomestic cat DMD 1994 2015-05-15
OMIA 000279-9685Diabetes mellitusFelis catusdomestic cat 2013-08-16
OMIA 000392-9685Fragile siteFelis catusdomestic cat 2005-09-06
OMIA 000684-9685Myasthenia gravisFelis catusdomestic cat 2005-09-06
OMIA 000283-9685Diabetes mellitus, type IFelis catusdomestic cat 2005-09-06
OMIA 000284-9685Diabetes mellitus, type IIFelis catusdomestic cat 2005-09-06
OMIA 000030-9685Alopecia, genericFelis catusdomestic cat 2005-09-06
OMIA 001867-9685Lissencephaly and cerebellar hypoplasiaFelis catusdomestic cat 2013-08-16
OMIA 001132-9685Spondylosis deformansFelis catusdomestic cat 2005-09-06
OMIA 000021-9685Agenesis of corpus callosumFelis catusdomestic cat 2011-10-06
OMIA 000881-9685Rod-cone dysplasiaFelis catusdomestic cat CRX 2010 2019-03-22
OMIA 001210-9685HyperlipoproteinaemiaFelis catusdomestic cat LPL 1996 2012-09-03
OMIA 000219-9685ColobomaFelis catusdomestic cat 2011-11-27
OMIA 001581-9685Curly coat, Devon rexFelis catusdomestic cat KRT71 2010 2014-05-30
OMIA 000328-9685Ehlers-Danlos syndrome, type VII (Dermatosparaxis)Felis catusdomestic cat 2005-07-16
OMIA 000085-9685Atresia coliFelis catusdomestic cat 2005-09-06
OMIA 000031-9685Coat colour, diluteFelis catusdomestic cat MLPH 2006 2018-09-13
OMIA 000346-9685EpistaxisFelis catusdomestic cat 2005-09-06
OMIA 000949-9685StrabismusFelis catusdomestic cat 2005-09-06
OMIA 000975-9685Tail, shortFelis catusdomestic cat T 2013 2013-08-22
OMIA 000424-9685Goitre, familialFelis catusdomestic cat 2005-09-06
OMIA 000869-9685Retinal dystrophyFelis catusdomestic cat 2005-09-06
OMIA 002165-9685Ehlers-Danlos syndrome, classic type, 1Felis catusdomestic cat COL5A1 2018 2019-02-11
OMIA 000438-9685Haemophilia BFelis catusdomestic cat F9 2005 2012-12-03
OMIA 000341-9685Epidermolysis bullosa, dystrophicFelis catusdomestic cat 2005-09-06
OMIA 000201-9685Coat colour, agoutiFelis catusdomestic cat ASIP 2003 2014-10-03
OMIA 000807-9685Polycystic kidney diseaseFelis catusdomestic cat PKD1 2004 2019-06-05
OMIA 000319-9685Ears, folded (drop vs prick)Felis catusdomestic cat TRPV4 2016 2016-04-13
OMIA 000275-9685Retinal detachmentFelis catusdomestic cat 2011-09-16
OMIA 000008-9685AcromegalyFelis catusdomestic cat 2017-01-30
OMIA 000324-9685EctrodactylyFelis catusdomestic cat 2011-10-17
OMIA 000901-9685XX testicular DSD (Disorder of Sexual Development)Felis catusdomestic cat 2017-09-13
OMIA 002185-9685Inflammatory linear verrucous epidermal nevus (ILVEN)Felis catusdomestic cat NSDHL 2019 2019-03-26
OMIA 000327-9685Ehlers-Danlos syndromeFelis catusdomestic cat 2018-05-28
OMIA 001229-9685Haemophagocytic syndromeFelis catusdomestic cat 2005-09-06
OMIA 000690-9685Myoclonus epilepsy of LaforaFelis catusdomestic cat 2019-04-15
OMIA 001227-9685IntussusceptionFelis catusdomestic cat 2005-09-06
OMIA 000181-9685Neuronal Ceroid Lipofuscinosis, genericFelis catusdomestic cat 2013-08-05
OMIA 000933-9685Spina bifidaFelis catusdomestic cat 2005-09-06
OMIA 000335-9685EncephalomyelopathyFelis catusdomestic cat 2005-09-06
OMIA 000416-9685Glucose-6-phosphate dehydrogenase deficiencyFelis catusdomestic cat 2005-09-06
OMIA 001620-9685Muscular dystrophy, limb-girdle, type 2EFelis catusdomestic cat 2011-10-07
OMIA 001056-9685Von Willebrand disease, genericFelis catusdomestic cat 2013-04-23
OMIA 000413-9685GlomerulonephritisFelis catusdomestic cat 2005-09-06
OMIA 000461-9685Hernia, hiatalFelis catusdomestic cat 2005-09-06
OMIA 000679-9685Muscular dystrophyFelis catusdomestic cat 2005-09-06
OMIA 000037-9685AmyloidosisFelis catusdomestic cat 2005-09-06
OMIA 000348-9685Epitheliogenesis imperfectaFelis catusdomestic cat 2005-09-06
OMIA 000038-9685Amyloidosis, AAFelis catusdomestic cat 2005-09-06
OMIA 000462-9685Hernia, inguinalFelis catusdomestic cat 2005-09-06
OMIA 000944-9685Spongiform encephalopathyFelis catusdomestic cat 2005-09-06
OMIA 000735-9685Ocular squamous cell carcinomaFelis catusdomestic cat 2019-03-28
OMIA 000048-9685AnodontiaFelis catusdomestic cat 2011-10-05
OMIA 000963-9685Syndactyly (mule foot)Felis catusdomestic cat 2005-09-06
OMIA 000364-9685Factor XII deficiencyFelis catusdomestic cat F12 2015 2017-04-13
OMIA 000595-9685Leukocyte adhesion deficiency, type IFelis catusdomestic cat ITGB2 2017 2017-08-04
OMIA 000363-9685Factor XI deficiencyFelis catusdomestic cat 2005-09-06
OMIA 000765-9685Pancreatic insufficiency, exocrineFelis catusdomestic cat 2005-09-06
OMIA 001041-9685Ventricular septal defectFelis catusdomestic cat 2011-11-28
OMIA 000968-9685Systemic lupus erythematosusFelis catusdomestic cat 2005-09-06
OMIA 000837-9685Vitamin D-deficiency rickets, type IFelis catusdomestic cat CYP27B1 2009 2012-12-07
OMIA 000077-9685Ataxia, genericFelis catusdomestic cat 2005-09-06
OMIA 000621-9685Malignant hyperthermiaFelis catusdomestic cat 2005-09-06
OMIA 000388-9685Fibrodysplasia ossificansFelis catusdomestic cat ACVR1 2019 2019-04-25
OMIA 000269-9685Dermatitis, atopicFelis catusdomestic cat 2005-09-06
OMIA 002064-9685Autoimmune lymphoproliferative syndromeFelis catusdomestic cat FASLG 2017 2017-09-14
OMIA 000625-9685Mannosidosis, alphaFelis catusdomestic cat MAN2B1 1997 2013-05-29
OMIA 000991-9685Androgen insensitivity syndrome (AIS)Felis catusdomestic cat 2011-09-07
OMIA 000578-9685Krabbe diseaseFelis catusdomestic cat 2005-09-06
OMIA 000396-9685Fucosidosis, alphaFelis catusdomestic cat 2005-09-06
OMIA 000629-9685MegacolonFelis catusdomestic cat 2005-09-06
OMIA 000994-9685Tetralogy of fallotFelis catusdomestic cat 2005-09-06
OMIA 000402-9685Gangliosidosis, GM1Felis catusdomestic cat GLB1 2008 2016-11-09
OMIA 000342-9685Epidermolysis bullosa, junctionalisFelis catusdomestic cat 2013-08-05
OMIA 001661-9685Adrenal hyperplasia, congenital, due to 11-beta hydroxylase deficiencyFelis catusdomestic cat CYP11B1 2012 2013-05-17
OMIA 001402-9685Multidrug resistance 1Felis catusdomestic cat 2015-11-14
OMIA 000245-9685Curly coatFelis catusdomestic cat 2011-07-20
OMIA 000712-9685Nephrotic syndromeFelis catusdomestic cat 2011-11-17
OMIA 000419-9685Glycogen storage disease IIFelis catusdomestic cat 2005-09-06
OMIA 000278-9685Diabetes insipidusFelis catusdomestic cat 2005-09-06
OMIA 000420-9685Glycogen storage disease IVFelis catusdomestic cat GBE1 2007 2011-12-09
OMIA 000344-9685EpilepsyFelis catusdomestic cat 2005-09-06
OMIA 001283-9685Xanthinuria, genericFelis catusdomestic cat 2005-09-06
OMIA 001249-9685Coat colour, brownFelis catusdomestic cat TYRP1 2005 2012-11-26
OMIA 000664-9685Mucopolysaccharidosis IFelis catusdomestic cat IDUA 1999 2012-09-15
OMIA 001417-9685Pulmonary fibrosis, idiopathicFelis catusdomestic cat 2005-10-06
OMIA 000666-9685Mucopolysaccharidosis VIFelis catusdomestic cat ARSB 1996 2016-08-05
OMIA 001222-9685Leber congenital amaurosisFelis catusdomestic cat AIPL1 2016 2016-04-02
OMIA 001551-9685BrachycephalyFelis catusdomestic cat ALX1 2016 2016-05-19
OMIA 000844-9685Pyruvate kinase deficiency of erythrocyteFelis catusdomestic cat PKLR 1997 2012-11-28
OMIA 001033-9685UrolithiasisFelis catusdomestic cat 2005-09-06
OMIA 000939-9685Spinal muscular atrophyFelis catusdomestic cat LIX1 2006 2011-12-09
OMIA 001175-9685Porphyria, congenital erythropoieticFelis catusdomestic cat UROS 2010 2013-06-18
OMIA 000478-9685HoloprosencephalyFelis catusdomestic cat 2016-04-13
OMIA 001109-9685Mycosis fungoidesFelis catusdomestic cat 2005-09-06
OMIA 001587-9685Deficiency of cytosolic arylamine N-acetylationFelis catusdomestic cat 1998 2019-04-24
OMIA 001016-9685TremorFelis catusdomestic cat 2005-09-06
OMIA 000588-9685Lens luxationFelis catusdomestic cat 2011-10-23
OMIA 000411-9685Glaucoma, genericFelis catusdomestic cat 2011-09-30
OMIA 001427-9685Gangliosidosis, GM2, GM2A deficiencyFelis catusdomestic cat GM2A 2005 2013-05-29
OMIA 000519-9685HypoadrenocorticismFelis catusdomestic cat 2005-09-06
OMIA 001431-9685Vitamin D-deficiency rickets, type IIFelis catusdomestic cat 2006-07-18
OMIA 001687-9685Inflammatory bowel diseaseFelis catusdomestic cat 2012-01-30
OMIA 000459-9685Hernia, diaphragmaticFelis catusdomestic cat 2005-09-06
OMIA 000878-9685Arrhythmogenic right ventricular cardiomyopathyFelis catusdomestic cat 2012-03-28
OMIA 001054-9685Vitamin-K-dependent blood coagulation factors deficiencyFelis catusdomestic cat 2005-09-06
OMIA 000187-9685ChondrodysplasiaFelis catusdomestic cat 2005-09-06
OMIA 001690-9685Hemifacial microsomia, type IIIFelis catusdomestic cat 2012-06-08
OMIA 001619-9685Muscular dystrophy, congenital merosin-deficientFelis catusdomestic cat 2011-10-07
OMIA 001774-9685Gyrate atrophy of choroid and retinaFelis catusdomestic cat 2013-04-13
OMIA 001059-9685Waardenburg syndrome, genericFelis catusdomestic cat 2005-09-06
OMIA 000830-9685Progressive retinal atrophyFelis catusdomestic cat 2017-05-05
OMIA 001243-9685AlkaptonuriaFelis catusdomestic cat 2016-05-27
OMIA 002017-9685Glaucoma 3, primary congenitalFelis catusdomestic cat LTBP2 2016 2016-05-27
OMIA 000209-9685Coat colour, dominant whiteFelis catusdomestic cat KIT 2014 2015-04-16
OMIA 001707-9685Retinal degeneration, fluoroquinolone-inducedFelis catusdomestic cat 2016-11-17
OMIA 000256-9685Cystinuria, type I - AFelis catusdomestic cat SLC3A1 2014 2016-08-04
OMIA 002023-9685Cystinuria, type BFelis catusdomestic cat SLC7A9 2016 2017-09-01
OMIA 001268-9685PheochromocytomaFelis catusdomestic cat 2005-09-06
OMIA 000473-9685Hip dysplasiaFelis catusdomestic cat 2005-09-06
OMIA 001691-9685Recombination rateFelis catusdomestic cat 2016-04-26
OMIA 000952-9685Subaortic stenosisFelis catusdomestic cat 2005-09-06
OMIA 000715-9685Neuroaxonal dystrophy, genericFelis catusdomestic cat 2005-09-06
OMIA 000432-9685Haemolytic anaemia, autoimmuneFelis catusdomestic cat 2005-09-06
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 001708-9685Lymphoma, non-HodgkinFelis catusdomestic cat 2016-08-30
OMIA 000487-9685HydrocephalusFelis catusdomestic cat 2005-09-06
OMIA 000162-9685Cardiomyopathy, dilatedFelis catusdomestic cat 2005-09-06
OMIA 001199-9685Coat colour, extensionFelis catusdomestic cat MC1R 2009 2017-03-02
OMIA 000437-9685Haemophilia AFelis catusdomestic cat 2013-08-29
OMIA 001438-9685Coat colour, silverFelis catusdomestic cat 2009-07-01
OMIA 000740-9685Olivopontocerebellar atrophyFelis catusdomestic cat 2011-10-26
OMIA 000494-9685HyperadrenocorticismFelis catusdomestic cat 2011-12-03
OMIA 000965-9685SyringomyeliaFelis catusdomestic cat 2011-10-26
OMIA 001046-9685Vertebral anomaliesFelis catusdomestic cat 2005-09-06
OMIA 000179-9685Cerebellar hypoplasiaFelis catusdomestic cat 2005-09-06
OMIA 001476-9685Collagenosis, reactive perforatingFelis catusdomestic cat 2009-12-01
OMIA 000508-9685HyperparathyroidismFelis catusdomestic cat 2005-09-06
OMIA 001248-9685Mucolipidosis IIFelis catusdomestic cat GNPTAB 2018 2019-03-02
OMIA 000753-9685OsteodystrophyFelis catusdomestic cat 2005-09-06
OMIA 000754-9685Osteogenesis imperfecta, genericFelis catusdomestic cat 2005-09-06
OMIA 000747-9685OsteoarthritisFelis catusdomestic cat 2005-09-06
OMIA 000185-9685Chediak-Higashi syndromeFelis catusdomestic cat 2005-09-06
OMIA 000511-9685HyperthyroidismFelis catusdomestic cat 2005-09-06
OMIA 002062-9685Guillain-Barr-like polyradiculoneuropathyFelis catusdomestic cat 2016-10-28
OMIA 000514-9685HypertriglyceridaemiaFelis catusdomestic cat 2005-09-06
OMIA 000515-9685Cardiomyopathy, hypertrophicFelis catusdomestic cat MYBPC3 2005 2014-03-31
OMIA 001764-9685Choanal atresiaFelis catusdomestic cat 2013-01-09
OMIA 002065-9685Niemann-Pick disease, type C2Felis catusdomestic cat NPC2 2014 2016-10-29
OMIA 000667-9685Mucopolysaccharidosis VIIFelis catusdomestic cat GUSB 1999 2015-12-31
OMIA 000097-9685Autoimmune thyroiditis, spontaneousFelis catusdomestic cat 2005-09-06
OMIA 000528-9685HypoparathyroidismFelis catusdomestic cat 2005-09-06
OMIA 001289-9685Urticaria pigmentosaFelis catusdomestic cat 2005-09-06
OMIA 000197-9685Cleft palateFelis catusdomestic cat 2005-09-06
OMIA 001776-9685Dihydropyrimidinase deficiencyFelis catusdomestic cat DPYS 2012 2013-04-15
OMIA 000495-9685Hyperbilirubinaemia, unclassifiedFelis catusdomestic cat 2005-09-06
OMIA 000536-9685HypothyroidismFelis catusdomestic cat TPO 2015 2015-01-29
OMIA 000064-9685ArthritisFelis catusdomestic cat 2005-09-06
OMIA 000362-9685Factor X deficiencyFelis catusdomestic cat 2005-09-06
OMIA 000783-9685Pelger-Huet anomalyFelis catusdomestic cat 2005-09-06
OMIA 000540-9685HypotrichosisFelis catusdomestic cat 2005-09-06
OMIA 001292-9685Polyneuropathy, genericFelis catusdomestic cat 2005-09-06
OMIA 001269-9685HyperaldosteronismFelis catusdomestic cat 2005-09-06
OMIA 001791-9685Intestinal cobalamin malabsorption, genericFelis catusdomestic cat 2013-04-23
OMIA 000791-9685Persistent Mullerian duct syndromeFelis catusdomestic cat 2005-09-06
OMIA 001230-9685Ovotesticular DSD (Disorder of Sexual Development)Felis catusdomestic cat 2010-09-26
OMIA 001166-9685PriapismFelis catusdomestic cat 2005-09-06
OMIA 001058-9685Von Willebrand disease IIIFelis catusdomestic cat 2013-04-23
OMIA 000573-9685Kartagener syndromeFelis catusdomestic cat 2005-09-06
OMIA 000082-9685AtopyFelis catusdomestic cat 2005-09-06
OMIA 000202-9685Coat colour, albinismFelis catusdomestic cat TYR 2005 2019-02-08
OMIA 001795-9685Niemann-Pick disease, type AFelis catusdomestic cat 2013-05-03
OMIA 001171-9685MethaemoglobinaemiaFelis catusdomestic cat 2005-09-06
OMIA 001737-9685Coat colour, white spotting, KIT-relatedFelis catusdomestic cat KIT 2014 2017-03-14
OMIA 000809-9685PolycythemiaFelis catusdomestic cat 2005-09-06
OMIA 000810-9685PolydactylyFelis catusdomestic cat SHH 2008 2012-05-02
OMIA 001803-9685Endocardial fibroelastosisFelis catusdomestic cat 2013-05-13
OMIA 000214-9685Coat colour, white spottingFelis catusdomestic cat 2017-03-14
OMIA 001702-9685Alopecia areataFelis catusdomestic cat 2013-05-15
OMIA 001493-9685Porphyria, acute intermittentFelis catusdomestic cat HMBS 2010 2013-11-22
OMIA 000779-9685Patent ductus arteriosusFelis catusdomestic cat 2005-09-06
OMIA 001315-9685OsteochondrodysplasiaFelis catusdomestic cat 2017-06-16
OMIA 000815-9685Porphyria, unclassifiedFelis catusdomestic cat 2005-09-06
OMIA 000703-9685NarcolepsyFelis catusdomestic cat 2010-11-05
OMIA 001188-9685PemphigusFelis catusdomestic cat 2005-09-06
OMIA 000817-9685Portosystemic shuntFelis catusdomestic cat 2005-09-06
OMIA 001813-9685HaemangiosarcomaFelis catusdomestic cat 2013-05-22
OMIA 000804-9685PneumothoraxFelis catusdomestic cat 2017-08-14
OMIA 001184-9685HypophosphataemiaFelis catusdomestic cat 2012-02-14
OMIA 000089-9685Atrial septal defectFelis catusdomestic cat 2005-09-06
OMIA 000821-9685Primary hyperoxaluria type II (Oxalosis II)Felis catusdomestic cat GRHPR 2009 2013-06-18
OMIA 001186-9685ErythrocytosisFelis catusdomestic cat 2005-09-06
OMIA 000698-9685MyotoniaFelis catusdomestic cat CLCN1 2014 2015-12-31
OMIA 000243-9685CryptorchidismFelis catusdomestic cat 2011-09-08
OMIA 001266-9685Otitis media, susceptibility toFelis catusdomestic cat 2005-09-06
OMIA 000750-9685OsteochondrosisFelis catusdomestic cat 2013-06-09
OMIA 000247-9685Cushing diseaseFelis catusdomestic cat 2005-09-06
OMIA 000312-9685DysautonomiaFelis catusdomestic cat 2005-09-06
OMIA 000249-9685CyclopiaFelis catusdomestic cat 2011-10-17
OMIA 000741-9685OmphaloceleFelis catusdomestic cat 2011-10-26
OMIA 002136-9685Goldenhar syndromeFelis catusdomestic cat 2018-01-20
OMIA 000258-9685Dandy-Walker syndromeFelis catusdomestic cat 2005-09-06
OMIA 001197-9685Horner syndromeFelis catusdomestic cat 2005-09-06
OMIA 002138-9685Cerebral amyloid angiopathyFelis catusdomestic cat 2018-01-24
OMIA 001949-9685Hypotrichosis, with short life expectancyFelis catusdomestic cat FOXN1 2015 2015-03-24
OMIA 001001-9685ThrombocytopeniaFelis catusdomestic cat 2005-09-06