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67 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 | domestic horse | AR | 2012 | 2024-06-03 |
| OMIA:000045-9796 | Aniridia with cataract | Equus caballus | domestic horse | 2024-06-15 | ||
| OMIA:000081-9796 | Atlanto occipital fusion | Equus caballus | domestic horse | HOXD3 | 2017 | 2017-01-26 |
| OMIA:001688-9796 | Auditory-pigmentary syndrome, PAX3-related | Equus caballus | domestic horse | PAX3 | 2012 | 2024-09-06 |
| OMIA:002187-9796 | Bilateral corneal stromal loss | Equus caballus | domestic horse | 2021-08-17 | ||
| OMIA:000122-9796 | Blood group system D | Equus caballus | domestic horse | 2020-05-15 | ||
| OMIA:002021-9796 | Brindle 1 | Equus caballus | domestic horse | MBTPS2 | 2016 | 2024-06-04 |
| OMIA:000168-9796 | Cataract, generic | Equus caballus | domestic horse | 2024-06-15 | ||
| OMIA:000175-9796 | Cerebellar abiotrophy | Equus caballus | domestic horse | MUTYH, TOE1 | 2011 | 2025-02-19 |
| OMIA:000201-9796 | Coat colour, agouti | Equus caballus | domestic horse | ASIP | 2001 | 2024-09-06 |
| OMIA:002124-9796 | Coat colour, albinism, oculocutaneous type VI | Equus caballus | domestic horse | SLC24A5 | 2017 | 2019-12-12 |
| OMIA:001249-9796 | Coat colour, brown, TYRP1-related | Equus caballus | domestic horse | 2012-09-19 | ||
| OMIA:001263-9796 | Coat colour, champagne | Equus caballus | domestic horse | SLC36A1 | 2008 | 2024-06-03 |
| OMIA:001344-9796 | Coat colour, cream dilution | Equus caballus | domestic horse | SLC45A2 | 2003 | 2024-09-06 |
| OMIA:000209-9796 | Coat colour, dominant white | Equus caballus | domestic horse | KIT | 2005 | 2025-11-28 |
| OMIA:001972-9796 | Coat colour, dun | Equus caballus | domestic horse | TBX3 | 2016 | 2025-01-22 |
| OMIA:001199-9796 | Coat colour, extension | Equus caballus | domestic horse | MC1R | 1996 | 2025-03-23 |
| OMIA:001356-9796 | Coat colour, grey/gray | Equus caballus | domestic horse | STX17 | 2008 | 2025-04-22 |
| OMIA:002139-9796 | Coat colour, Leopard Complex Spotting | Equus caballus | domestic horse | TRPM1 | 2013 | 2025-04-15 |
| OMIA:002197-9796 | Coat colour, phaeomelanin dilution, MFSD12-related | Equus caballus | domestic horse | MFSD12 | 2019 | 2024-06-03 |
| OMIA:001216-9796 | Coat colour, roan | Equus caballus | domestic horse | 2025-09-04 | ||
| OMIA:001438-9796 | Coat colour, silver | Equus caballus | domestic horse | PMEL | 2006 | 2024-11-24 |
| OMIA:000214-9796 | Coat colour, white spotting | Equus caballus | domestic horse | MITF | 2012 | 2024-09-06 |
| OMIA:000245-9796 | Curly coat | Equus caballus | domestic horse | KRT25 | 2017 | 2019-03-14 |
| OMIA:002175-9796 | Curly coat with hypotrichosis | Equus caballus | domestic horse | SP6 | 2018 | 2024-06-05 |
| OMIA:001501-9796 | Dilute coat color with neurological defects | Equus caballus | domestic horse | MYO5A | 2010 | 2023-01-13 |
| OMIA:001271-9796 | Dwarfism, ACAN-related | Equus caballus | domestic horse | ACAN | 2017 | 2025-04-24 |
| OMIA:002068-9796 | Dwarfism, B4GALT7-related | Equus caballus | domestic horse | B4GALT7 | 2016 | 2021-11-02 |
| OMIA:000327-9796 | Ehlers-Danlos syndrome, generic | Equus caballus | domestic horse | PPIB | 2007 | 2024-06-03 |
| OMIA:001677-9796 | Epidermolysis bullosa, junctionalis, LAMA3-related | Equus caballus | domestic horse | LAMA3 | 2009 | 2024-09-06 |
| OMIA:001678-9796 | Epidermolysis bullosa, junctionalis, LAMC2-related | Equus caballus | domestic horse | LAMC2 | 2002 | 2022-04-30 |
| OMIA:000354-9796 | Exostoses, multiple | Equus caballus | domestic horse | 2024-05-28 | ||
| OMIA:001715-9796 | Gaitedness, DMRT3-related | Equus caballus | domestic horse | DMRT3 | 2012 | 2024-11-26 |
| OMIA:000416-9796 | Glucose-6-phosphate dehydrogenase deficiency | Equus caballus | domestic horse | 2024-06-15 | ||
| OMIA:000420-9796 | Glycogen storage disease IV | Equus caballus | domestic horse | GBE1 | 2004 | 2023-02-15 |
| OMIA:000437-9796 | Haemophilia A | Equus caballus | domestic horse | 2020-06-02 | ||
| OMIA:001968-9796 | Height, HMGA2-associated body-size variation | Equus caballus | domestic horse | HMGA2 | 2015 | 2025-08-28 |
| OMIA:001897-9796 | Hoof wall separation syndrome | Equus caballus | domestic horse | SERPINB11 | 2015 | 2020-04-16 |
| OMIA:000487-9796 | Hydrocephalus | Equus caballus | domestic horse | B3GALNT2 | 2015 | 2024-06-04 |
| OMIA:000496-9796 | Hyperbilirubinaemia I | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000689-9796 | Hyperekplexia, GLRA1-related | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:000785-9796 | Hyperkalemic Periodic Paralysis, HYPP | Equus caballus | domestic horse | SCN4A | 1992 | 2024-08-06 |
| OMIA:002458-9796 | Hypoparathyroidism, RAPGEF5-related | Equus caballus | domestic horse | RAPGEF5 | 2020 | 2025-03-07 |
| OMIA:001578-9796 | Immunodeficiency syndrome, SLC5A3-related | Equus caballus | domestic horse | SLC5A3 | 2011 | 2022-04-30 |
| OMIA:001899-9796 | Incontinentia pigmenti | Equus caballus | domestic horse | IKBKG | 2013 | 2024-09-06 |
| OMIA:001982-9796 | kyphoscoliotic Ehlers-Danlos syndrome (kEDS), PLOD1-related | Equus caballus | domestic horse | PLOD1 | 2011 | 2025-03-07 |
| OMIA:002977-9796 | Lipase deficiency, combined, LMF1-related | Equus caballus | domestic horse | LMF1 | 2025 | 2025-09-22 |
| OMIA:001938-9796 | Liver fibrosis, congenital, PKHD1-related | Equus caballus | domestic horse | 2024-06-04 | ||
| OMIA:000621-9796 | Malignant hyperthermia | Equus caballus | domestic horse | RYR1 | 2004 | 2025-05-07 |
| OMIA:000629-9796 | Megacolon | Equus caballus | domestic horse | EDNRB | 1998 | 2024-06-04 |
| OMIA:000733-9796 | Multiple ocular defects | Equus caballus | domestic horse | PMEL | 2011 | 2025-04-27 |
| OMIA:002141-9796 | Myositis, immune-mediated | Equus caballus | domestic horse | MYH1 | 2018 | 2024-06-04 |
| OMIA:000698-9796 | Myotonia | Equus caballus | domestic horse | CLCN1 | 2012 | 2024-05-09 |
| OMIA:002096-9796 | Naked foal syndrome | Equus caballus | domestic horse | ST14 | 2017 | 2020-04-24 |
| OMIA:002692-9796 | Night blindness, congenital stationary, GRM6-related | Equus caballus | domestic horse | GRM6 | 2025-04-27 | |
| OMIA:001341-9796 | Night blindness, congenital stationary, TRPM1-related | Equus caballus | domestic horse | TRPM1 | 2011 | 2025-04-27 |
| OMIA:000735-9796 | Ocular squamous cell carcinoma | Equus caballus | domestic horse | DDB2 | 2017 | 2025-04-15 |
| OMIA:000810-9796 | Polydactyly | Equus caballus | domestic horse | 2024 | 2025-01-28 | |
| OMIA:001158-9796 | Polysaccharide storage myopathy/PSSM1/Exertional rhabdomyolysis | Equus caballus | domestic horse | GYS1 | 2008 | 2025-04-28 |
| OMIA:000835-9796 | Protein C deficiency | Equus caballus | domestic horse | 2024-06-15 | ||
| OMIA:000220-9796 | Severe combined immunodeficiency disease, autosomal, PRKDC-related | Equus caballus | domestic horse | PRKDC | 1997 | 2024-06-03 |
| OMIA:001728-9796 | Sex determination | Equus caballus | domestic horse | 2024-08-21 | ||
| OMIA:002013-9796 | Skeletal atavism | Equus caballus | domestic horse | SHOX | 2016 | 2024-06-03 |
| OMIA:001000-9796 | Thrombasthenia | Equus caballus | domestic horse | ITGA2B | 2006 | 2020-06-02 |
| OMIA:002272-9796 | Thrombasthenia, atypical, SEL1L-related | Equus caballus | domestic horse | SEL1L | 2025 | 2025-07-17 |
| OMIA:001339-9796 | Von Willebrand disease II | Equus caballus | domestic horse | 2013-04-23 | ||
| OMIA:001230-9796 | XY sex reversal, SRY-related | Equus caballus | domestic horse | SRY | 1995 | 2024-06-03 |