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44 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:000045-9796 | Aniridia with cataract | Equus caballus | horse | 2011-11-27 | ||
| 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:002187-9796 | Bilateral corneal stromal loss | Equus caballus | horse | 2021-08-17 | ||
| OMIA:000168-9796 | Cataract, generic | Equus caballus | horse | 2012-08-24 | ||
| OMIA:000175-9796 | Cerebellar abiotrophy | Equus caballus | horse | MUTYH, TOE1 | 2011 | 2023-01-10 |
| OMIA:001938-9796 | Congenital liver fibrosis (CLF) | Equus caballus | horse | 2014-11-03 | ||
| 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 | 2024-03-27 |
| OMIA:001678-9796 | Epidermolysis bullosa, junctionalis, LAMC2-related | Equus caballus | horse | LAMC2 | 2002 | 2022-04-30 |
| OMIA:000354-9796 | Exostoses, multiple | Equus caballus | horse | 2011-09-05 | ||
| OMIA:000416-9796 | Glucose-6-phosphate dehydrogenase deficiency | Equus caballus | horse | 2005-09-06 | ||
| OMIA:000420-9796 | Glycogen storage disease IV | Equus caballus | horse | GBE1 | 2004 | 2023-02-15 |
| OMIA:000437-9796 | Haemophilia A | Equus caballus | horse | 2020-06-02 | ||
| 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:000496-9796 | Hyperbilirubinaemia I | Equus caballus | horse | 2005-09-06 | ||
| OMIA:000689-9796 | Hyperekplexia, GLRA1-related | Equus caballus | horse | 2023-05-27 | ||
| 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 | 2024-03-27 |
| 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:000835-9796 | Protein C deficiency | Equus caballus | horse | 2005-09-06 | ||
| 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:001339-9796 | Von Willebrand disease II | Equus caballus | horse | 2013-04-23 | ||
| OMIA:001056-9796 | Von Willebrand disease, generic | Equus caballus | horse | 2005-09-06 | ||
| OMIA:001230-9796 | XY sex reversal, SRY-related | Equus caballus | horse | SRY | 1995 | 2023-10-01 |