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32 phene records found

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OMIA ID Phene Species Scientific Name Species Common Name Gene Year Key Mutation First Reported Date Last Modified
OMIA:000991-9796 Androgen insensitivity syndrome (AIS) Equus caballus horse AR 2012 2022-04-30
OMIA:000081-9796 Atlanto occipital fusion Equus caballus horse HOXD3 2017 2017-01-26
OMIA:001688-9796 Auditory-pigmentary syndrome, PAX3-related Equus caballus horse PAX3 2012 2024-03-01
OMIA:000175-9796 Cerebellar abiotrophy Equus caballus horse MUTYH, TOE1 2011 2023-01-10
OMIA:001501-9796 Dilute coat color with neurological defects Equus caballus horse MYO5A 2010 2023-01-13
OMIA:001271-9796 Dwarfism, ACAN-related Equus caballus horse ACAN 2017 2021-08-30
OMIA:002068-9796 Dwarfism, Friesian Equus caballus horse B4GALT7 2016 2021-11-02
OMIA:000327-9796 Ehlers-Danlos syndrome, generic Equus caballus horse PPIB 2007 2021-10-29
OMIA:001677-9796 Epidermolysis bullosa, junctionalis, LAMA3-related Equus caballus horse LAMA3 2009 2013-12-11
OMIA:001678-9796 Epidermolysis bullosa, junctionalis, LAMC2-related Equus caballus horse LAMC2 2002 2022-04-30
OMIA:000420-9796 Glycogen storage disease IV Equus caballus horse GBE1 2004 2023-02-15
OMIA:001897-9796 Hoof wall separation syndrome Equus caballus horse SERPINB11 2015 2020-04-16
OMIA:000487-9796 Hydrocephalus Equus caballus horse B3GALNT2 2015 2021-08-17
OMIA:000785-9796 Hyperkalemic Periodic Paralysis, HYPP Equus caballus horse SCN4A 1992 2019-03-25
OMIA:002458-9796 Hypoparathyroidism, RAPGEF5-related Equus caballus horse RAPGEF5 2020 2022-10-31
OMIA:001578-9796 Immunodeficiency syndrome, SLC5A3-related Equus caballus horse SLC5A3 2011 2022-04-30
OMIA:001899-9796 Incontinentia pigmenti Equus caballus horse IKBKG 2013 2022-11-23
OMIA:001982-9796 kyphoscoliotic Ehlers-Danlos syndrome (kEDS), PLOD1-related Equus caballus horse PLOD1 2011 2022-10-31
OMIA:000621-9796 Malignant hyperthermia Equus caballus horse RYR1 2004 2022-04-25
OMIA:000629-9796 Megacolon Equus caballus horse EDNRB 1998 2023-01-18
OMIA:000733-9796 Multiple ocular defects Equus caballus horse PMEL 2011 2023-12-08
OMIA:002141-9796 Myositis, immune-mediated Equus caballus horse MYH1 2018 2022-11-15
OMIA:000698-9796 Myotonia Equus caballus horse CLCN1 2012 2023-10-20
OMIA:002096-9796 Naked foal syndrome Equus caballus horse ST14 2017 2020-04-24
OMIA:002692-9796 Night blindness, congenital stationary, GRM6-related Equus caballus horse GRM6 2023-10-15
OMIA:001341-9796 Night blindness, congenital stationary, TRPM1-related Equus caballus horse TRPM1 2011 2020-05-15
OMIA:000735-9796 Ocular squamous cell carcinoma Equus caballus horse DDB2 2017 2023-04-28
OMIA:001158-9796 Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis Equus caballus horse GYS1 2008 2021-04-19
OMIA:000220-9796 Severe combined immunodeficiency disease, autosomal, PRKDC-related Equus caballus horse PRKDC 1997 2019-09-21
OMIA:002013-9796 Skeletal atavism Equus caballus horse SHOX 2016 2022-04-30
OMIA:001000-9796 Thrombasthenia Equus caballus horse ITGA2B 2006 2020-06-02
OMIA:001230-9796 XY sex reversal, SRY-related Equus caballus horse SRY 1995 2023-10-01