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170 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:002520-9796 | Agenesis, pulmonary | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:001702-9796 | Alopecia areata | Equus caballus | domestic horse | 2013-05-15 | ||
| OMIA:002565-9796 | Amastia, congenital | Equus caballus | domestic horse | 2023-07-17 | ||
| OMIA:000037-9796 | Amyloidosis, generic | Equus caballus | domestic horse | 2025-05-01 | ||
| OMIA:000991-9796 | Androgen insensitivity syndrome (AIS) | Equus caballus | domestic horse | AR | 2012 | 2024-06-03 |
| OMIA:000048-9796 | Anodontia | Equus caballus | domestic horse | 2024-01-09 | ||
| OMIA:002671-9796 | Asthma, susceptibility | Equus caballus | domestic horse | 2023-11-05 | ||
| OMIA:000081-9796 | Atlanto occipital fusion | Equus caballus | domestic horse | HOXD3 | 2017 | 2017-01-26 |
| OMIA:000085-9796 | Atresia coli | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001181-9796 | Atrial fibrillation | Equus caballus | domestic horse | 2022-11-25 | ||
| OMIA:000089-9796 | Atrial septal defect | Equus caballus | domestic horse | 2024-02-07 | ||
| OMIA:001688-9796 | Auditory-pigmentary syndrome, PAX3-related | Equus caballus | domestic horse | PAX3 | 2012 | 2024-09-06 |
| OMIA:002021-9796 | Brindle 1 | Equus caballus | domestic horse | MBTPS2 | 2016 | 2024-06-04 |
| OMIA:001183-9796 | Bullous pemphigoid | Equus caballus | domestic horse | 2024-06-04 | ||
| OMIA:002400-9796 | Casein, kappa | Equus caballus | domestic horse | 2023-06-08 | ||
| OMIA:000175-9796 | Cerebellar abiotrophy | Equus caballus | domestic horse | MUTYH, TOE1 | 2011 | 2025-02-19 |
| OMIA:001764-9796 | Choanal atresia | Equus caballus | domestic horse | 2013-01-09 | ||
| OMIA:000392-9796 | Chromosomal structural anomaly, fragile site, autosomal | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:002558-9796 | Chromosomal structural anomaly, translocation, reciprocal | Equus caballus | domestic horse | 2025-09-17 | ||
| OMIA:000197-9796 | Cleft palate | Equus caballus | domestic horse | 2005-09-06 | ||
| 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:002116-9796 | Coat colour, albinism, oculocutaneous, HPS5-related | Equus caballus | domestic horse | 2024-06-04 | ||
| 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:000219-9796 | Coloboma | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:000243-9796 | Cryptorchidism | Equus caballus | domestic horse | 2005-09-06 | ||
| 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:000494-9796 | Cushing syndrome, generic | Equus caballus | domestic horse | 2013-12-11 | ||
| OMIA:000269-9796 | Dermatitis, atopic | Equus caballus | domestic horse | 2023-05-10 | ||
| OMIA:000278-9796 | Diabetes insipidus | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000279-9796 | Diabetes mellitus | Equus caballus | domestic horse | 2013-08-05 | ||
| OMIA:001501-9796 | Dilute coat color with neurological defects | Equus caballus | domestic horse | MYO5A | 2010 | 2023-01-13 |
| OMIA:001841-9796 | Distichiasis | Equus caballus | domestic horse | 2021-08-17 | ||
| 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:000299-9796 | Dwarfism, generic | Equus caballus | domestic horse | 2020-11-30 | ||
| OMIA:000312-9796 | Dysautonomia | Equus caballus | domestic horse | 2021-08-31 | ||
| OMIA:000327-9796 | Ehlers-Danlos syndrome, generic | Equus caballus | domestic horse | PPIB | 2007 | 2024-06-03 |
| OMIA:000335-9796 | Encephalomyelopathy | Equus caballus | domestic horse | 2024-06-04 | ||
| OMIA:001803-9796 | Endocardial fibroelastosis | Equus caballus | domestic horse | 2024-06-16 | ||
| 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:000344-9796 | Epilepsy | Equus caballus | domestic horse | 2011-12-18 | ||
| OMIA:001757-9796 | Epilepsy, juvenile idiopathic | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:001186-9796 | Erythrocytosis | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:002140-9796 | Exercise induced metabolic myopathy | Equus caballus | domestic horse | 2024-08-11 | ||
| OMIA:000354-9796 | Exostoses, multiple | Equus caballus | domestic horse | 2024-05-28 | ||
| OMIA:000366-9796 | Fanconi syndrome | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:001715-9796 | Gaitedness, DMRT3-related | Equus caballus | domestic horse | DMRT3 | 2012 | 2024-11-26 |
| OMIA:000411-9796 | Glaucoma, generic | Equus caballus | domestic horse | 2011-09-07 | ||
| 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:000422-9796 | Glyoxalase II deficiency | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001813-9796 | Haemangiosarcoma | Equus caballus | domestic horse | 2021-11-03 | ||
| OMIA:000428-9796 | Haemochromatosis | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000437-9796 | Haemophilia A | Equus caballus | domestic horse | 2020-06-02 | ||
| OMIA:000438-9796 | Haemophilia B | Equus caballus | domestic horse | 2016-01-19 | ||
| OMIA:001968-9796 | Height, HMGA2-associated body-size variation | Equus caballus | domestic horse | HMGA2 | 2015 | 2025-08-28 |
| OMIA:002246-9796 | Height, LCORL-associated body-size variation | Equus caballus | domestic horse | 2024-02-07 | ||
| OMIA:000459-9796 | Hernia, diaphragmatic | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000462-9796 | Hernia, inguinal | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000473-9796 | Hip dysplasia | Equus caballus | domestic horse | 2024-12-13 | ||
| OMIA:000478-9796 | Holoprosencephaly | Equus caballus | domestic horse | 2023-02-12 | ||
| OMIA:001897-9796 | Hoof wall separation syndrome | Equus caballus | domestic horse | SERPINB11 | 2015 | 2020-04-16 |
| OMIA:001197-9796 | Horner syndrome | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000487-9796 | Hydrocephalus | Equus caballus | domestic horse | B3GALNT2 | 2015 | 2024-06-04 |
| OMIA:001107-9796 | Hymen, imperforate | Equus caballus | domestic horse | 2011-10-06 | ||
| OMIA:000496-9796 | Hyperbilirubinaemia I | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000495-9796 | Hyperbilirubinaemia, generic | 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:001160-9796 | Hyperlipidaemia | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001210-9796 | Hyperlipoproteinaemia | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001290-9796 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome | Equus caballus | domestic horse | 2022-10-23 | ||
| OMIA:000508-9796 | Hyperparathyroidism | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000511-9796 | Hyperthyroidism | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000519-9796 | Hypoadrenocorticism | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000528-9796 | Hypoparathyroidism | Equus caballus | domestic horse | 2021-10-22 | ||
| OMIA:002458-9796 | Hypoparathyroidism, RAPGEF5-related | Equus caballus | domestic horse | RAPGEF5 | 2020 | 2025-03-07 |
| OMIA:001187-9796 | Hypospadias | Equus caballus | domestic horse | 2011-06-02 | ||
| OMIA:000536-9796 | Hypothyroidism, congenital | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001578-9796 | Immunodeficiency syndrome, SLC5A3-related | Equus caballus | domestic horse | SLC5A3 | 2011 | 2022-04-30 |
| OMIA:001762-9796 | Impaired acrosomal reaction | Equus caballus | domestic horse | 2024-11-06 | ||
| OMIA:001899-9796 | Incontinentia pigmenti | Equus caballus | domestic horse | IKBKG | 2013 | 2024-09-06 |
| OMIA:001687-9796 | Inflammatory bowel disease | Equus caballus | domestic horse | 2023-05-02 | ||
| OMIA:001227-9796 | Intussusception, susceptibility to | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001287-9796 | Keratitis | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000576-9796 | Knobbed acrosome | Equus caballus | domestic horse | 2005-09-06 | ||
| 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:001189-9796 | Lymphangiectasia | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000621-9796 | Malignant hyperthermia | Equus caballus | domestic horse | RYR1 | 2004 | 2025-05-07 |
| OMIA:001217-9796 | Meckel diverticulum | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000629-9796 | Megacolon | Equus caballus | domestic horse | EDNRB | 1998 | 2024-06-04 |
| OMIA:001457-9796 | Multiple acyl-CoA dehydrogenase deficiency | Equus caballus | domestic horse | 2022-03-31 | ||
| OMIA:000733-9796 | Multiple ocular defects | Equus caballus | domestic horse | PMEL | 2011 | 2025-04-27 |
| OMIA:001109-9796 | Mycosis fungoides | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:002480-9796 | Myopathy, atypical | Equus caballus | domestic horse | 2021-11-24 | ||
| OMIA:002330-9796 | Myopathy, myofibrillar | Equus caballus | domestic horse | 2021-06-17 | ||
| 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:000703-9796 | Narcolepsy | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:002852-9796 | Nasolacrimal duct obstruction | Equus caballus | domestic horse | 2024-05-06 | ||
| OMIA:000715-9796 | Neuroaxonal dystrophy, generic | Equus caballus | domestic horse | 2024-04-15 | ||
| 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:001258-9796 | Obesity | Equus caballus | domestic horse | 2023-10-16 | ||
| OMIA:000735-9796 | Ocular squamous cell carcinoma | Equus caballus | domestic horse | DDB2 | 2017 | 2025-04-15 |
| OMIA:000741-9796 | Omphalocele | Equus caballus | domestic horse | 2011-10-26 | ||
| OMIA:000747-9796 | Osteoarthritis | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000750-9796 | Osteochondrosis | Equus caballus | domestic horse | 2022-01-29 | ||
| OMIA:000755-9796 | Osteopetrosis | Equus caballus | domestic horse | 2024-06-04 | ||
| OMIA:001266-9796 | Otitis media, susceptibility to | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001147-9796 | Papillomatosis, cutaneous | Equus caballus | domestic horse | 2011-11-25 | ||
| OMIA:000779-9796 | Patent ductus arteriosus | Equus caballus | domestic horse | 2024-02-07 | ||
| OMIA:001188-9796 | Pemphigus | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000807-9796 | Polycystic kidney disease | Equus caballus | domestic horse | 2024-06-16 | ||
| 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:000817-9796 | Portosystemic shunt | Equus caballus | domestic horse | 2012-12-07 | ||
| OMIA:000819-9796 | Prekallikrein deficiency | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000823-9796 | Prognathism | Equus caballus | domestic horse | 2025-01-08 | ||
| OMIA:000835-9796 | Protein C deficiency | Equus caballus | domestic horse | 2024-06-15 | ||
| OMIA:001205-9796 | Pseudocholinesterase deficiency | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001538-9796 | Racing distance | Equus caballus | domestic horse | MSTN | 2015 | 2025-06-17 |
| OMIA:001691-9796 | Recombination rate | Equus caballus | domestic horse | 2019-09-05 | ||
| OMIA:001456-9796 | Recurrent airway obstruction | Equus caballus | domestic horse | 2023-11-05 | ||
| OMIA:001135-9796 | Renal dysplasia | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000275-9796 | Retinal detachment | Equus caballus | domestic horse | 2011-09-16 | ||
| OMIA:000888-9796 | Sarcoid | Equus caballus | domestic horse | 2025-05-07 | ||
| OMIA:000891-9796 | Scoliosis | Equus caballus | domestic horse | 2014-06-28 | ||
| OMIA:001161-9796 | Self-mutilation syndrome | Equus caballus | domestic horse | 2005-09-06 | ||
| 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:001102-9796 | Situs inversus | Equus caballus | domestic horse | 2016-04-29 | ||
| OMIA:002013-9796 | Skeletal atavism | Equus caballus | domestic horse | SHOX | 2016 | 2024-06-03 |
| OMIA:001132-9796 | Spondylosis deformans | Equus caballus | domestic horse | 2025-04-19 | ||
| OMIA:000944-9796 | Spongiform encephalopathy, susceptibility/resistance to | Equus caballus | domestic horse | 2021-08-25 | ||
| OMIA:001174-9796 | Synovial chondromatosis | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:000965-9796 | Syringomyelia | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:001761-9796 | Telomere length | Equus caballus | domestic horse | 2024-01-17 | ||
| OMIA:001535-9796 | Testicular regression syndrome | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:000994-9796 | Tetralogy of Fallot | Equus caballus | domestic horse | 2024-02-07 | ||
| 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:001001-9796 | Thrombocytopenia | Equus caballus | domestic horse | 2024-06-16 | ||
| OMIA:001013-9796 | Torticollis | Equus caballus | domestic horse | 2022-10-29 | ||
| OMIA:002824-9796 | Tricuspid valve atresia | Equus caballus | domestic horse | 2024-02-07 | ||
| OMIA:001033-9796 | Urolithiasis | Equus caballus | domestic horse | 2005-09-06 | ||
| OMIA:001041-9796 | Ventricular septal defect | Equus caballus | domestic horse | 2024-02-07 | ||
| OMIA:001046-9796 | Vertebral anomalies | Equus caballus | domestic horse | 2024-10-24 | ||
| OMIA:001055-9796 | Vitiligo | Equus caballus | domestic horse | 2024-09-03 | ||
| OMIA:001339-9796 | Von Willebrand disease II | Equus caballus | domestic horse | 2013-04-23 | ||
| OMIA:001056-9796 | Von Willebrand disease, generic | Equus caballus | domestic horse | 2024-06-05 | ||
| OMIA:001230-9796 | XY sex reversal, SRY-related | Equus caballus | domestic horse | SRY | 1995 | 2024-06-03 |
| OMIA:001079-9796 | Yellow fat | Equus caballus | domestic horse | 2011-09-14 |