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58 phene records found

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 000735-9796Ocular squamous cell carcinomaEquus caballushorse DDB2 2017 2019-03-28
OMIA 002013-9796Skeletal atavismEquus caballushorse SHOX 2016 2016-05-24
OMIA 001271-9796Dwarfism, ACAN-relatedEquus caballushorse ACAN 2017 2019-03-05
OMIA 000496-9796Hyperbilirubinaemia IEquus caballushorse 2005-09-06
OMIA 001356-9796Coat colour, grey/grayEquus caballushorse STX17 2008 2013-08-12
OMIA 000175-9796Cerebellar abiotrophyEquus caballushorse sMUTYH, TOE1 2011 2019-04-11
OMIA 000689-9796MyoclonusEquus 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 001263-9796Coat colour, champagneEquus caballushorse SLC36A1 2008 2013-06-19
OMIA 000209-9796Coat colour, dominant whiteEquus caballushorse KIT 2005 2019-09-02
OMIA 000733-9796Multiple ocular defectsEquus caballushorse PMEL 2011 2017-12-12
OMIA 001339-9796Von Willebrand disease IIEquus caballushorse 2013-04-23
OMIA 001938-9796Congenital liver fibrosis (CLF)Equus caballushorse 2014-11-03
OMIA 000122-9796Blood group system DEquus caballushorse 2005-09-06
OMIA 001578-9796Foal immunodeficiency syndrome in the Fell and Dales PonyEquus caballushorse SLC5A3 2011 2011-12-09
OMIA 000201-9796Coat colour, agoutiEquus caballushorse ASIP 2001 2012-09-19
OMIA 002021-9796Brindle 1Equus caballushorse MBTPS2 2016 2016-08-13
OMIA 001899-9796Incontinentia pigmentiEquus caballushorse IKBKG 2013 2016-08-15
OMIA 000420-9796Glycogen storage disease IVEquus caballushorse GBE1 2004 2012-10-17
OMIA 000081-9796Atlanto occipital fusionEquus caballushorse HOXD3 2017 2017-01-26
OMIA 002096-9796Naked foal syndromeEquus caballushorse ST14 2017 2017-03-01
OMIA 000991-9796Androgen insensitivity syndrome (AIS)Equus caballushorse AR 2012 2017-08-06
OMIA 001341-9796Night blindness, congenital stationaryEquus caballushorse TRPM1 2011 2017-12-12
OMIA 000629-9796MegacolonEquus caballushorse EDNRB 1998 2018-08-17
OMIA 001000-9796ThrombastheniaEquus caballushorse ITGA2B 2006 2012-12-05
OMIA 000437-9796Haemophilia AEquus caballushorse 2016-01-19
OMIA 000785-9796Hyperkalemic Periodic Paralysis, HYPPEquus caballushorse SCN4A 1992 2019-03-25
OMIA 000220-9796Severe combined immunodeficiency disease, autosomalEquus caballushorse PRKDC 1997 2019-09-21
OMIA 001216-9796Coat colour, roanEquus caballushorse 2011-10-14
OMIA 001678-9796Epidermolysis bullosa, junctionalis, LAMC2-relatedEquus caballushorse LAMC2 2002 2016-04-13
OMIA 000487-9796HydrocephalusEquus caballushorse B3GALNT2 2015 2019-04-26
OMIA 001972-9796Coat colour, dunEquus caballushorse TBX3 2016 2019-02-12
OMIA 002187-9796Bilateral corneal stromal lossEquus caballushorse 2019-03-30
OMIA 001199-9796Coat colour, extensionEquus caballushorse MC1R 1996 2015-09-28
OMIA 001501-9796Lavender foal syndromeEquus caballushorse MYO5A 2010 2011-12-09
OMIA 000327-9796Ehlers-Danlos syndromeEquus caballushorse PPIB 2007 2016-01-19
OMIA 002124-9796Coat colour, albinism, oculocutaneous type VIEquus caballushorse SLC24A5 2017 2017-09-02
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 000416-9796Glucose-6-phosphate dehydrogenase deficiencyEquus caballushorse 2005-09-06
OMIA 001249-9796Coat colour, brownEquus caballushorse 2012-09-19
OMIA 001982-9796Ehlers-Danlos Syndrome, type VI (WBFFS)Equus caballushorse PLOD1 2011 2019-05-24
OMIA 000835-9796Protein C deficiencyEquus caballushorse 2005-09-06
OMIA 000168-9796Cataract, genericEquus caballushorse 2012-08-24
OMIA 000245-9796Curly coatEquus caballushorse KRT25 2017 2019-03-14
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 001158-9796Polysaccharide storage myopathy/Exertional rhabdomyolysisEquus caballushorse GYS1 2008 2018-09-15
OMIA 000621-9796Malignant hyperthermiaEquus caballushorse RYR1 2004 2012-10-17
OMIA 001677-9796Epidermolysis bullosa, junctionalis, LAMA3-relatedEquus caballushorse LAMA3 2009 2013-12-11
OMIA 002139-9796Coat colour, Leopard Complex SpottingEquus caballushorse TRPM1 2013 2019-05-06
OMIA 002068-9796Dwarfism, FriesianEquus caballushorse B4GALT7 2016 2016-10-31
OMIA 000354-9796Exostosis, multipleEquus caballushorse 2011-09-05
OMIA 000045-9796Aniridia with cataractEquus caballushorse 2011-11-27
OMIA 000698-9796MyotoniaEquus caballushorse CLCN1 2012 2012-08-17