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235 phene records found

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 000994-9796Tetralogy of fallotEquus caballushorse 2005-09-06
OMIA 000733-9796Multiple ocular defectsEquus caballushorse PMEL 2011 2017-12-12
OMIA 001894-9796Cervical vertebral compressive myelopathyEquus caballushorse 2013-12-11
OMIA 001857-9796Pentalogy of FallotEquus caballushorse 2013-06-16
OMIA 001858-9796Bone fractureEquus caballushorse 2013-06-16
OMIA 000794-9796Persistent right aortic archEquus caballushorse 2005-09-06
OMIA 000446-9796Heart defect, congenitalEquus caballushorse 2005-09-06
OMIA 001033-9796UrolithiasisEquus caballushorse 2005-09-06
OMIA 000087-9796Atresia intestinalEquus caballushorse 2005-09-06
OMIA 000466-9796Hernia, ventralEquus caballushorse 2005-09-06
OMIA 000496-9796Hyperbilirubinaemia IEquus caballushorse 2005-09-06
OMIA 000334-9796Resistance to encephalomyelitisEquus caballushorse 2011-10-18
OMIA 001578-9796Foal immunodeficiency syndrome in the Fell and Dales PonyEquus caballushorse SLC5A3 2011 2011-12-09
OMIA 000181-9796Neuronal Ceroid Lipofuscinosis, genericEquus caballushorse 2013-08-05
OMIA 001079-9796Yellow fatEquus caballushorse 2011-09-14
OMIA 000888-9796SarcoidEquus caballushorse 2013-10-28
OMIA 000031-9796Coat colour, diluteEquus caballushorse 2018-09-13
OMIA 000085-9796Atresia coliEquus caballushorse 2005-09-06
OMIA 000064-9796ArthritisEquus caballushorse 2005-09-06
OMIA 001214-9796OsteochondromatosisEquus caballushorse 2005-09-06
OMIA 001872-9796Recurrent uveitisEquus caballushorse 2013-12-11
OMIA 001205-9796Pseudocholinesterase deficiencyEquus caballushorse 2005-09-06
OMIA 000748-9796Osteochondritis dissecansEquus caballushorse 2005-09-06
OMIA 001217-9796Meckel diverticulumEquus caballushorse 2005-09-06
OMIA 000437-9796Haemophilia AEquus caballushorse 2016-01-19
OMIA 000411-9796Glaucoma, genericEquus caballushorse 2011-09-07
OMIA 001210-9796HyperlipoproteinaemiaEquus caballushorse 2005-09-06
OMIA 000785-9796Hyperkalemic Periodic Paralysis, HYPPEquus caballushorse SCN4A 1992 2019-03-25
OMIA 001601-9796Sex reversal: XY female, SRY-positiveEquus caballushorse 2012-07-04
OMIA 000002-9796AbrachiaEquus caballushorse 2005-09-07
OMIA 000335-9796EncephalomyelopathyEquus caballushorse 2005-09-06
OMIA 000715-9796Neuroaxonal dystrophy, genericEquus caballushorse 2016-10-28
OMIA 002175-9796Curly coat with hypotrichosisEquus caballushorse SP6 2018 2019-03-14
OMIA 001884-9796Coat colour, white markingsEquus caballushorse 2013-10-13
OMIA 000275-9796Retinal detachmentEquus caballushorse 2011-09-16
OMIA 001225-9796LaminitisEquus caballushorse 2005-09-06
OMIA 001022-9796TwinningEquus caballushorse 2005-09-06
OMIA 001891-9796Ectopic ureterEquus caballushorse 2013-11-25
OMIA 000511-9796HyperthyroidismEquus caballushorse 2005-09-06
OMIA 002187-9796Bilateral corneal stromal lossEquus caballushorse 2019-03-30
OMIA 000464-9796Hernia, scrotalEquus caballushorse 2005-09-06
OMIA 001041-9796Ventricular septal defectEquus caballushorse 2005-09-06
OMIA 000327-9796Ehlers-Danlos syndromeEquus caballushorse PPIB 2007 2016-01-19
OMIA 001227-9796IntussusceptionEquus caballushorse 2005-09-06
OMIA 001230-9796Ovotesticular DSD (Disorder of Sexual Development)Equus caballushorse SRY 1995 2015-12-31
OMIA 001897-9796Hoof wall separation syndromeEquus caballushorse SERPINB11 2015 2015-04-21
OMIA 001898-9796Metabolic syndromeEquus caballushorse 2013-12-11
OMIA 000416-9796Glucose-6-phosphate dehydrogenase deficiencyEquus caballushorse 2005-09-06
OMIA 001249-9796Coat colour, brownEquus caballushorse 2012-09-19
OMIA 001341-9796Night blindness, congenital stationaryEquus caballushorse TRPM1 2011 2017-12-12
OMIA 000028-9796Alloimmune haemolytic anaemia of the newbornEquus caballushorse 2005-09-06
OMIA 001232-9796Bone spavinEquus caballushorse 2011-08-10
OMIA 000494-9796HyperadrenocorticismEquus caballushorse 2013-12-11
OMIA 001158-9796Polysaccharide storage myopathy/Exertional rhabdomyolysisEquus caballushorse GYS1 2008 2018-09-15
OMIA 001344-9796Coat colour, cream dilutionEquus caballushorse SLC45A2 2003 2019-04-25
OMIA 002197-9796Coat colour, phaeomelanin dilution, MFSD12-relatedEquus caballushorse MFSD12 2019 2019-05-23
OMIA 000366-9796Fanconi syndromeEquus caballushorse 2014-02-08
OMIA 001896-9796Exercise-induced pulmonary hemorrhageEquus caballushorse 2013-12-11
OMIA 000234-9796Coxofemoral luxationEquus caballushorse 2005-09-06
OMIA 000348-9796Epitheliogenesis imperfectaEquus caballushorse 2005-09-06
OMIA 000039-9796Amyloidosis, lambdaEquus caballushorse 2005-09-06
OMIA 000420-9796Glycogen storage disease IVEquus caballushorse GBE1 2004 2012-10-17
OMIA 001206-9796Laryngeal paralysisEquus caballushorse 2013-12-11
OMIA 000866-9796Retinal degenerationEquus caballushorse 2005-09-06
OMIA 000950-9796StringhaltEquus caballushorse 2005-09-06
OMIA 000354-9796Exostosis, multipleEquus caballushorse 2011-09-05
OMIA 000045-9796Aniridia with cataractEquus caballushorse 2011-11-27
OMIA 000249-9796CyclopiaEquus caballushorse 2011-10-17
OMIA 000358-9796Eye defectsEquus caballushorse 2005-09-06
OMIA 001271-9796Dwarfism, ACAN-relatedEquus caballushorse ACAN 2017 2019-03-05
OMIA 000891-9796ScoliosisEquus caballushorse 2014-06-28
OMIA 001924-9796LordosisEquus caballushorse 2014-06-28
OMIA 001925-9796Resistance/susceptibility to arteritis virusEquus caballushorse 2014-06-28
OMIA 001356-9796Coat colour, grey/grayEquus caballushorse STX17 2008 2013-08-12
OMIA 000105-9796OsteoporosisEquus caballushorse 2011-10-03
OMIA 000147-9796BrachygnathiaEquus caballushorse 2005-09-06
OMIA 000789-9796Perosomus elumbisEquus caballushorse 2014-10-02
OMIA 000604-9796Linear epidermal neviEquus caballushorse 2005-09-06
OMIA 000209-9796Coat colour, dominant whiteEquus caballushorse KIT 2005 2018-04-19
OMIA 001001-9796ThrombocytopeniaEquus caballushorse 2005-09-06
OMIA 001938-9796Congenital liver fibrosis (CLF)Equus caballushorse 2014-11-03
OMIA 000122-9796Blood group system DEquus caballushorse 2005-09-06
OMIA 000579-9796LamenessEquus caballushorse 2005-09-06
OMIA 000747-9796OsteoarthritisEquus caballushorse 2005-09-06
OMIA 000074-9796Arytenoid chondritisEquus caballushorse 2005-09-06
OMIA 000621-9796Malignant hyperthermiaEquus caballushorse RYR1 2004 2012-10-17
OMIA 001181-9796Atrial fibrillationEquus caballushorse 2015-04-16
OMIA 000081-9796Atlanto occipital fusionEquus caballushorse HOXD3 2017 2017-01-26
OMIA 000990-9796Tendons, contracted, congenitalEquus caballushorse 2011-11-03
OMIA 000991-9796Androgen insensitivity syndrome (AIS)Equus caballushorse AR 2012 2017-08-06
OMIA 000629-9796MegacolonEquus caballushorse EDNRB 1998 2018-08-17
OMIA 001013-9796TorticollisEquus caballushorse 2005-09-06
OMIA 000279-9796Diabetes mellitusEquus caballushorse 2013-08-05
OMIA 000090-9796Atrial septal defect and atrial fibrillationEquus caballushorse 2005-09-06
OMIA 000795-9796Persistent truncus arteriosusEquus caballushorse 2011-10-26
OMIA 001968-9796Height, HMGA2 associated body size variationEquus caballushorse 2016-10-26
OMIA 001971-9796Ventricular septal defect and quadricuspid aortic valveEquus caballushorse 2015-12-12
OMIA 001972-9796Coat colour, dunEquus caballushorse TBX3 2016 2019-02-12
OMIA 001102-9796Situs inversusEquus caballushorse 2016-04-29
OMIA 001199-9796Coat colour, extensionEquus caballushorse MC1R 1996 2015-09-28
OMIA 001408-9796Guttural pouch tympanyEquus caballushorse 2005-09-16
OMIA 000422-9796Glyoxalase II deficiencyEquus caballushorse 2005-09-06
OMIA 000478-9796HoloprosencephalyEquus caballushorse 2005-09-18
OMIA 000720-9796Neurological syndromeEquus caballushorse 2005-09-06
OMIA 001982-9796Ehlers-Danlos Syndrome, type VI (WBFFS)Equus caballushorse PLOD1 2011 2019-05-24
OMIA 001983-9796Factors VIII, IX, and X, combined deficiency ofEquus caballushorse 2016-01-19
OMIA 000438-9796Haemophilia BEquus caballushorse 2016-01-19
OMIA 001535-9796Testicular regression syndromeEquus caballushorse 2010-11-12
OMIA 000069-9796Arthrogryposis, genericEquus caballushorse 2005-09-06
OMIA 001664-9796Insect bite hypersensitivityEquus caballushorse 2016-04-14
OMIA 000116-9796Blood group systems, genericEquus caballushorse 2005-09-06
OMIA 000576-9796Knobbed acrosomeEquus caballushorse 2005-09-06
OMIA 001036-9796Uterus bicollisEquus caballushorse 2005-09-06
OMIA 000676-9796ShiversEquus caballushorse 2011-10-26
OMIA 001677-9796Epidermolysis bullosa, junctionalis, LAMA3-relatedEquus caballushorse LAMA3 2009 2013-12-11
OMIA 001678-9796Epidermolysis bullosa, junctionalis, LAMC2-relatedEquus caballushorse LAMC2 2002 2016-04-13
OMIA 000392-9796Fragile siteEquus caballushorse 2005-09-06
OMIA 000448-9796Heels, contractedEquus caballushorse 2011-10-18
OMIA 000344-9796EpilepsyEquus caballushorse 2011-12-18
OMIA 000698-9796MyotoniaEquus caballushorse CLCN1 2012 2012-08-17
OMIA 001042-9796Ventricular septal defect and atrial fibrillationEquus caballushorse 2005-09-06
OMIA 000890-9796Schistosomus reflexusEquus caballushorse 2011-11-02
OMIA 000735-9796Ocular squamous cell carcinomaEquus caballushorse DDB2 2017 2019-03-28
OMIA 001120-9796Myelopathy, fibrocartilaginous embolicEquus caballushorse 2005-09-06
OMIA 000175-9796Cerebellar abiotrophyEquus caballushorse sMUTYH, TOE1 2011 2019-04-11
OMIA 000689-9796MyoclonusEquus caballushorse 2005-09-06
OMIA 000459-9796Hernia, diaphragmaticEquus caballushorse 2005-09-06
OMIA 000214-9796Coat colour, white spottingEquus caballushorse MITF 2012 2019-02-05
OMIA 001688-9796Coat colour, white spotting, PAX3-relatedEquus caballushorse PAX3 2012 2018-04-19
OMIA 001056-9796Von Willebrand disease, genericEquus caballushorse 2005-09-06
OMIA 001438-9796Coat colour, silverEquus caballushorse PMEL 2006 2018-01-29
OMIA 001189-9796LymphangiectasiaEquus caballushorse 2005-09-06
OMIA 001263-9796Coat colour, champagneEquus caballushorse SLC36A1 2008 2013-06-19
OMIA 000462-9796Hernia, inguinalEquus caballushorse 2005-09-06
OMIA 001537-9796Polysaccharide storage myopathy, type 2Equus caballushorse 2018-09-15
OMIA 000958-9796Summer soresEquus caballushorse 2005-09-06
OMIA 000337-9796EntropionEquus caballushorse 2005-09-06
OMIA 002013-9796Skeletal atavismEquus caballushorse SHOX 2016 2016-05-24
OMIA 000465-9796Hernia, umbilicalEquus caballushorse 2005-09-06
OMIA 000703-9796NarcolepsyEquus caballushorse 2005-09-06
OMIA 000704-9796Navicular diseaseEquus caballushorse 2005-09-06
OMIA 001187-9796HypospadiasEquus caballushorse 2011-06-02
OMIA 000779-9796Patent ductus arteriosusEquus caballushorse 2005-09-06
OMIA 000299-9796DwarfismEquus caballushorse 2016-10-31
OMIA 002021-9796Brindle 1Equus caballushorse MBTPS2 2016 2016-08-13
OMIA 001076-9796WryneckEquus caballushorse 2011-10-28
OMIA 000810-9796PolydactylyEquus caballushorse 2008-04-02
OMIA 001456-9796Recurrent airway obstructionEquus caballushorse 2013-12-11
OMIA 001715-9796GaitednessEquus caballushorse LOC100147177 2012 2019-05-30
OMIA 000428-9796HaemochromatosisEquus caballushorse 2005-09-06
OMIA 000480-9796Hoof, flatEquus caballushorse 2005-09-06
OMIA 000434-9796Haemolytic anaemia, primary autoimmuneEquus caballushorse 2005-09-06
OMIA 001899-9796Incontinentia pigmentiEquus caballushorse IKBKG 2013 2016-08-15
OMIA 001107-9796Hymen, imperforateEquus caballushorse 2011-10-06
OMIA 001873-9796Response to trainingEquus caballushorse 2013-08-28
OMIA 000487-9796HydrocephalusEquus caballushorse B3GALNT2 2015 2019-04-26
OMIA 001266-9796Otitis media, susceptibility toEquus caballushorse 2005-09-06
OMIA 000168-9796Cataract, genericEquus caballushorse 2012-08-24
OMIA 000495-9796Hyperbilirubinaemia, unclassifiedEquus caballushorse 2005-09-06
OMIA 000659-9796MonorchidismEquus caballushorse 2005-09-06
OMIA 000278-9796Diabetes insipidusEquus caballushorse 2005-09-06
OMIA 001109-9796Mycosis fungoidesEquus caballushorse 2005-09-06
OMIA 002053-9796HydrallantoisEquus caballushorse 2016-10-17
OMIA 000750-9796OsteochondrosisEquus caballushorse 2005-09-06
OMIA 001757-9796Epilepsy, juvenile idiopathicEquus caballushorse 2012-11-30
OMIA 000817-9796Portosystemic shuntEquus caballushorse 2012-12-07
OMIA 001290-9796Hyperornithinemia, hyperammonemia, and homocitrullinuria syndromeEquus caballushorse 2005-09-06
OMIA 001760-9796Common Variable ImmunoDeficiencyEquus caballushorse 2013-01-04
OMIA 001762-9796Impaired acrosomal reactionEquus caballushorse 2013-01-05
OMIA 001286-9796Evans syndromeEquus caballushorse 2005-09-06
OMIA 001764-9796Choanal atresiaEquus caballushorse 2013-01-09
OMIA 001197-9796Horner syndromeEquus caballushorse 2005-09-06
OMIA 002068-9796Dwarfism, FriesianEquus caballushorse B4GALT7 2016 2016-10-31
OMIA 001147-9796Papillomatosis, cutaneousEquus caballushorse 2011-11-25
OMIA 001770-9796Impaired balanceEquus caballushorse 2013-02-06
OMIA 000777-9796Patella dislocationEquus caballushorse 2005-09-06
OMIA 000197-9796Cleft palateEquus caballushorse 2005-09-06
OMIA 000662-9796Motor neuron disease, lowerEquus caballushorse 2013-12-11
OMIA 000741-9796OmphaloceleEquus caballushorse 2011-10-26
OMIA 001161-9796Self-mutilation syndromeEquus caballushorse 2005-09-06
OMIA 000200-9796Coat colours, genericEquus caballushorse 2005-09-06
OMIA 001291-9796Blood group system UEquus caballushorse 2005-09-06
OMIA 001163-9796Myeloencephalopathy, degenerative Equus caballushorse 2019-04-04
OMIA 000508-9796HyperparathyroidismEquus caballushorse 2005-09-06
OMIA 001501-9796Lavender foal syndromeEquus caballushorse MYO5A 2010 2011-12-09
OMIA 002086-9796Degenerative suspensory ligament desmitisEquus caballushorse 2016-12-07
OMIA 001339-9796Von Willebrand disease IIEquus caballushorse 2013-04-23
OMIA 000201-9796Coat colour, agoutiEquus caballushorse ASIP 2001 2012-09-19
OMIA 001307-9796Palmar/plantar osteochondral fragmentsEquus caballushorse 2005-09-06
OMIA 000502-9796Hypereosinophilic syndromeEquus caballushorse 2013-12-11
OMIA 002094-9796Aortic ruptureEquus caballushorse 2017-01-30
OMIA 001277-9796Otitis interna, susceptibility toEquus caballushorse 2005-09-06
OMIA 000554-9796Immunoglobulin G deficiencyEquus caballushorse 2005-09-06
OMIA 000556-9796Immunoglobulin M deficiencyEquus caballushorse 2005-09-06
OMIA 000807-9796Polycystic kidney diseaseEquus caballushorse 2005-09-06
OMIA 001457-9796Multiple acyl-CoA dehydrogenase deficiencyEquus caballushorse 2013-12-11
OMIA 001055-9796VitiligoEquus caballushorse 2011-11-25
OMIA 001803-9796Endocardial fibroelastosisEquus caballushorse 2013-05-13
OMIA 001174-9796Synovial chondromatosisEquus caballushorse 2005-09-06
OMIA 001000-9796ThrombastheniaEquus caballushorse ITGA2B 2006 2012-12-05
OMIA 000564-9796IntersexEquus caballushorse 2005-09-06
OMIA 000528-9796HypoparathyroidismEquus caballushorse 2005-09-06
OMIA 001702-9796Alopecia areataEquus caballushorse 2013-05-15
OMIA 000536-9796HypothyroidismEquus caballushorse 2005-09-06
OMIA 000220-9796Severe combined immunodeficiency disease, autosomalEquus caballushorse PRKDC 1997 2019-03-25
OMIA 001216-9796Coat colour, roanEquus caballushorse 2011-10-14
OMIA 000259-9796DeafnessEquus caballushorse 2010-11-12
OMIA 000901-9796XX testicular DSD (Disorder of Sexual Development)Equus caballushorse 2012-10-17
OMIA 001813-9796HaemangiosarcomaEquus caballushorse 2013-05-22
OMIA 001135-9796Renal dysplasiaEquus caballushorse 2005-09-06
OMIA 000965-9796SyringomyeliaEquus caballushorse 2011-10-26
OMIA 000819-9796Prekallikrein deficiencyEquus caballushorse 2005-09-06
OMIA 000219-9796ColobomaEquus caballushorse 2011-11-27
OMIA 001186-9796ErythrocytosisEquus caballushorse 2005-09-06
OMIA 001160-9796HyperlipidaemiaEquus caballushorse 2005-09-06
OMIA 001816-9796Superficial digital flexor tendon injury Equus caballushorse 2013-05-30
OMIA 000241-9796CribbingEquus caballushorse 2011-11-04
OMIA 002124-9796Coat colour, albinism, oculocutaneous type VIEquus caballushorse SLC24A5 2017 2017-09-02
OMIA 001188-9796PemphigusEquus caballushorse 2005-09-06
OMIA 000519-9796HypoadrenocorticismEquus caballushorse 2005-09-06
OMIA 000631-9796MegaoesophagusEquus caballushorse 2013-11-26
OMIA 000243-9796CryptorchidismEquus caballushorse 2005-09-06
OMIA 001538-9796Racing distanceEquus caballushorse 2019-02-11
OMIA 000835-9796Protein C deficiencyEquus caballushorse 2005-09-06
OMIA 000245-9796Curly coatEquus caballushorse KRT25 2017 2019-03-14
OMIA 000312-9796DysautonomiaEquus caballushorse 2005-09-06
OMIA 000755-9796OsteopetrosisEquus caballushorse 2005-09-06
OMIA 000613-9796LymphoedemaEquus caballushorse 2014-03-26
OMIA 002096-9796Naked foal syndromeEquus caballushorse ST14 2017 2017-03-01
OMIA 000823-9796PrognathismEquus caballushorse 2014-01-29
OMIA 002139-9796Coat colour, Leopard Complex SpottingEquus caballushorse TRPM1 2013 2019-05-06
OMIA 001287-9796KeratitisEquus caballushorse 2005-09-06
OMIA 002141-9796Myositis, immune-mediatedEquus caballushorse MYH1 2018 2019-02-05
OMIA 002144-9796Medetomidine insensitivityEquus caballushorse 2018-03-23
OMIA 000268-9796Dermal allergyEquus caballushorse 2005-09-06