Search Results

Advanced search

129 phene records found

[show instead gene records]

By default, tables are sorted chronologically by Year Key Mutation First Reported, to provide a historical perspective.

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 Reported
OMIA 001702-9796Alopecia areataEquus caballushorse
OMIA 000991-9796Androgen insensitivity syndrome (AIS)Equus caballushorse AR 2012
OMIA 000064-9796ArthritisEquus caballushorse
OMIA 000069-9796Arthrogryposis, genericEquus caballushorse
OMIA 000085-9796Atresia coliEquus caballushorse
OMIA 001181-9796Atrial fibrillationEquus caballushorse
OMIA 002021-9796Brindle 1Equus caballushorse MBTPS2 2016
OMIA 000175-9796Cerebellar abiotrophyEquus caballushorse MUTYH 2011
OMIA 001764-9796Choanal atresiaEquus caballushorse
OMIA 000197-9796Cleft palateEquus caballushorse
OMIA 000201-9796Coat colour, agoutiEquus caballushorse ASIP 2001
OMIA 002124-9796Coat colour, albinism, oculocutaneous type VIEquus caballushorse SLC24A5 2017
OMIA 001249-9796Coat colour, brownEquus caballushorse
OMIA 001344-9796Coat colour, cream dilutionEquus caballushorse SLC45A2 2003
OMIA 000031-9796Coat colour, diluteEquus caballushorse
OMIA 000209-9796Coat colour, dominant whiteEquus caballushorse KIT 2005
OMIA 001199-9796Coat colour, extensionEquus caballushorse MC1R 1996
OMIA 001216-9796Coat colour, roanEquus caballushorse
OMIA 001438-9796Coat colour, silverEquus caballushorse PMEL 2006
OMIA 000214-9796Coat colour, white spottingEquus caballushorse MITF 2012
OMIA 001688-9796Coat colour, white spotting, PAX3-relatedEquus caballushorse PAX3 2012
OMIA 000219-9796ColobomaEquus caballushorse
OMIA 001938-9796Congenital liver fibrosis (CLF)Equus caballushorse
OMIA 000243-9796CryptorchidismEquus caballushorse
OMIA 000245-9796Curly coatEquus caballushorse KRT25 2017
OMIA 000249-9796CyclopiaEquus caballushorse
OMIA 000278-9796Diabetes insipidusEquus caballushorse
OMIA 000279-9796Diabetes mellitusEquus caballushorse
OMIA 001271-9796Dwarfism, ACAN-relatedEquus caballushorse ACAN 2017
OMIA 002068-9796Dwarfism, FriesianEquus caballushorse B4GALT7 2016
OMIA 000312-9796DysautonomiaEquus caballushorse
OMIA 000327-9796Ehlers-Danlos syndromeEquus caballushorse PPIB 2007
OMIA 001982-9796Ehlers-Danlos Syndrome, type VIEquus caballushorse PLOD1 2011
OMIA 000335-9796EncephalomyelopathyEquus caballushorse
OMIA 001803-9796Endocardial fibroelastosisEquus caballushorse
OMIA 001677-9796Epidermolysis bullosa, junctionalis, LAMA3-relatedEquus caballushorse LAMA3 2009
OMIA 001678-9796Epidermolysis bullosa, junctionalis, LAMC2-relatedEquus caballushorse LAMC2 2002
OMIA 000344-9796EpilepsyEquus caballushorse
OMIA 001757-9796Epilepsy, juvenile idiopathicEquus caballushorse
OMIA 000348-9796Epitheliogenesis imperfectaEquus caballushorse
OMIA 001186-9796ErythrocytosisEquus caballushorse
OMIA 000354-9796Exostosis, multipleEquus caballushorse
OMIA 000366-9796Fanconi syndromeEquus caballushorse
OMIA 000392-9796Fragile siteEquus caballushorse
OMIA 000411-9796Glaucoma, genericEquus caballushorse
OMIA 000416-9796Glucose-6-phosphate dehydrogenase deficiencyEquus caballushorse
OMIA 000420-9796Glycogen storage disease IVEquus caballushorse GBE1 2004
OMIA 000422-9796Glyoxalase II deficiencyEquus caballushorse
OMIA 001813-9796HaemangiosarcomaEquus caballushorse
OMIA 000428-9796HaemochromatosisEquus caballushorse
OMIA 000437-9796Haemophilia AEquus caballushorse
OMIA 000438-9796Haemophilia BEquus caballushorse
OMIA 001968-9796Height, HMGA2 associated body size variationEquus caballushorse
OMIA 000459-9796Hernia, diaphragmaticEquus caballushorse
OMIA 000462-9796Hernia, inguinalEquus caballushorse
OMIA 000478-9796HoloprosencephalyEquus caballushorse
OMIA 001197-9796Horner syndromeEquus caballushorse
OMIA 000487-9796HydrocephalusEquus caballushorse B3GALNT2 2015
OMIA 001107-9796Hymen, imperforateEquus caballushorse
OMIA 000494-9796HyperadrenocorticismEquus caballushorse
OMIA 000496-9796Hyperbilirubinaemia IEquus caballushorse
OMIA 000495-9796Hyperbilirubinaemia, unclassifiedEquus caballushorse
OMIA 000785-9796Hyperkalemic Periodic Paralysis, HYPPEquus caballushorse SCN4A 1992
OMIA 001160-9796HyperlipidaemiaEquus caballushorse
OMIA 001210-9796HyperlipoproteinaemiaEquus caballushorse
OMIA 000508-9796HyperparathyroidismEquus caballushorse
OMIA 000511-9796HyperthyroidismEquus caballushorse
OMIA 000519-9796HypoadrenocorticismEquus caballushorse
OMIA 000528-9796HypoparathyroidismEquus caballushorse
OMIA 001187-9796HypospadiasEquus caballushorse
OMIA 000536-9796HypothyroidismEquus caballushorse
OMIA 001899-9796Incontinentia pigmentiEquus caballushorse IKBKG 2013
OMIA 001227-9796IntussusceptionEquus caballushorse
OMIA 001287-9796KeratitisEquus caballushorse
OMIA 001501-9796Lavender foal syndromeEquus caballushorse MYO5A 2010
OMIA 001189-9796LymphangiectasiaEquus caballushorse
OMIA 000621-9796Malignant hyperthermiaEquus caballushorse RYR1 2004
OMIA 001217-9796Meckel diverticulumEquus caballushorse
OMIA 000629-9796MegacolonEquus caballushorse EDNRB 1998
OMIA 001457-9796Multiple acyl-CoA dehydrogenase deficiencyEquus caballushorse
OMIA 001109-9796Mycosis fungoidesEquus caballushorse
OMIA 000689-9796MyoclonusEquus caballushorse
OMIA 002141-9796Myositis, immune-mediatedEquus caballushorse MYH1 2018
OMIA 000698-9796MyotoniaEquus caballushorse CLCN1 2012
OMIA 002096-9796Naked foal syndromeEquus caballushorse ST14 2017
OMIA 000703-9796NarcolepsyEquus caballushorse
OMIA 000715-9796Neuroaxonal dystrophy, genericEquus caballushorse
OMIA 000181-9796Neuronal Ceroid Lipofuscinosis, genericEquus caballushorse
OMIA 001341-9796Night blindness, congenital stationaryEquus caballushorse TRPM1 2011
OMIA 000735-9796Ocular squamous cell carcinomaEquus caballushorse DDB2 2017
OMIA 000741-9796OmphaloceleEquus caballushorse
OMIA 000747-9796OsteoarthritisEquus caballushorse
OMIA 001214-9796OsteochondromatosisEquus caballushorse
OMIA 000750-9796OsteochondrosisEquus caballushorse
OMIA 000755-9796OsteopetrosisEquus caballushorse
OMIA 001266-9796Otitis media, susceptibility toEquus caballushorse
OMIA 001230-9796Ovotesticular DSD (Disorder of Sexual Development)Equus caballushorse SRY 1995
OMIA 001147-9796Papillomatosis, cutaneousEquus caballushorse
OMIA 000779-9796Patent ductus arteriosusEquus caballushorse
OMIA 001188-9796PemphigusEquus caballushorse
OMIA 000807-9796Polycystic kidney diseaseEquus caballushorse
OMIA 000810-9796PolydactylyEquus caballushorse
OMIA 001158-9796Polysaccharide storage myopathy/Exertional rhabdomyolysisEquus caballushorse GYS1 2008
OMIA 000817-9796Portosystemic shuntEquus caballushorse
OMIA 000819-9796Prekallikrein deficiencyEquus caballushorse
OMIA 000823-9796PrognathismEquus caballushorse
OMIA 000835-9796Protein C deficiencyEquus caballushorse
OMIA 001205-9796Pseudocholinesterase deficiencyEquus caballushorse
OMIA 001135-9796Renal dysplasiaEquus caballushorse
OMIA 000275-9796Retinal detachmentEquus caballushorse
OMIA 000888-9796SarcoidEquus caballushorse
OMIA 000891-9796ScoliosisEquus caballushorse
OMIA 001161-9796Self-mutilation syndromeEquus caballushorse
OMIA 000220-9796Severe combined immunodeficiency disease, autosomalEquus caballushorse PRKDC 1997
OMIA 001102-9796Situs inversusEquus caballushorse
OMIA 002013-9796Skeletal atavismEquus caballushorse SHOX 2016
OMIA 001174-9796Synovial chondromatosisEquus caballushorse
OMIA 000965-9796SyringomyeliaEquus caballushorse
OMIA 001535-9796Testicular regression syndromeEquus caballushorse
OMIA 000994-9796Tetralogy of fallotEquus caballushorse
OMIA 001000-9796ThrombastheniaEquus caballushorse ITGA2B 2006
OMIA 001001-9796ThrombocytopeniaEquus caballushorse
OMIA 001013-9796TorticollisEquus caballushorse
OMIA 001033-9796UrolithiasisEquus caballushorse
OMIA 001041-9796Ventricular septal defectEquus caballushorse
OMIA 001055-9796VitiligoEquus caballushorse
OMIA 001339-9796Von Willebrand disease IIEquus caballushorse
OMIA 001056-9796Von Willebrand disease, genericEquus caballushorse
OMIA 000901-9796XX testicular DSD (Disorder of Sexual Development)Equus caballushorse