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207 phene records found | [show instead gene records] |
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| OMIA ID | Phene | Species Scientific Name | Species Common Name | Gene | Year Key Mutation First Reported | Date Last Modified |
|---|---|---|---|---|---|---|
| OMIA 002041-9913 | Abortion (embryonic lethality), RPIA-related | Bos taurus | cattle | RPIA | 2016 | |
| OMIA 000001-9913 | Abortion due to haplotype HH1 | Bos taurus | cattle | APAF1 | 2012 | |
| OMIA 001826-9913 | Abortion due to haplotype HH4 | Bos taurus | cattle | GART | 2013 | |
| OMIA 001827-9913 | Abortion due to haplotype MH1 | Bos taurus | cattle | PFAS | 2013 | |
| OMIA 001828-9913 | Abortion due to haplotype MH2 | Bos taurus | cattle | SLC37A2 | 2013 | |
| OMIA 001926-9913 | Achondrogenesis, type II | Bos taurus | cattle | COL2A1 | 2014 | |
| OMIA 000593-9913 | Acrodermatitis enteropathica | Bos taurus | cattle | SLC39A4 | 2002 | |
| OMIA 000021-9913 | Agenesis of corpus callosum | Bos taurus | cattle | |||
| OMIA 000022-9913 | Agnathia | Bos taurus | cattle | |||
| OMIA 001702-9913 | Alopecia areata | Bos taurus | cattle | |||
| OMIA 000030-9913 | Alopecia, generic | Bos taurus | cattle | |||
| OMIA 000038-9913 | Amyloidosis, AA | Bos taurus | cattle | |||
| OMIA 000991-9913 | Androgen insensitivity syndrome (AIS) | Bos taurus | cattle | |||
| OMIA 000044-9913 | Anencephaly | Bos taurus | cattle | |||
| OMIA 000543-9913 | Anhidrotic ectodermal dysplasia, EDA-related | Bos taurus | cattle | EDA | 2001 | |
| OMIA 002128-9913 | Anhidrotic ectodermal dysplasia, EDAR-related | Bos taurus | cattle | EDAR | 2017 | |
| OMIA 001541-9913 | Arachnomelia, BTA23 | Bos taurus | cattle | MOCS1 | 2011 | |
| OMIA 000061-9913 | Arnold-Chiari malformation | Bos taurus | cattle | |||
| OMIA 002022-9913 | Arthrogryposis multiplex congenita, CHRNB1-related | Bos taurus | cattle | CHRNB1 | 2016 | |
| OMIA 001978-9913 | Arthrogryposis, distal, type 1B | Bos taurus | cattle | MYBPC1 | 2015 | |
| OMIA 000069-9913 | Arthrogryposis, generic | Bos taurus | cattle | |||
| OMIA 001169-9913 | Ascites | Bos taurus | cattle | |||
| OMIA 002167-9913 | Asthenospermia | Bos taurus | cattle | CCDC189 | 2019 | |
| OMIA 000077-9913 | Ataxia, generic | Bos taurus | cattle | |||
| OMIA 000085-9913 | Atresia coli | Bos taurus | cattle | |||
| OMIA 000089-9913 | Atrial septal defect | Bos taurus | cattle | |||
| OMIA 001502-9913 | Caprine-like Generalized Hypoplasia Syndrome | Bos taurus | cattle | CEP250 | 2015 | |
| OMIA 000162-9913 | Cardiomyopathy, dilated | Bos taurus | cattle | OPA3 | 2011 | |
| OMIA 000515-9913 | Cardiomyopathy, hypertrophic | Bos taurus | cattle | |||
| OMIA 002111-9913 | Cataract, recessive, CPAMD8-related | Bos taurus | cattle | CPAMD8 | 2017 | |
| OMIA 001936-9913 | Cataract, recessive, NID1-related | Bos taurus | cattle | NID1 | 2014 | |
| OMIA 000175-9913 | Cerebellar abiotrophy | Bos taurus | cattle | |||
| OMIA 000179-9913 | Cerebellar hypoplasia | Bos taurus | cattle | |||
| OMIA 000185-9913 | Chediak-Higashi syndrome | Bos taurus | cattle | LYST | 1999 | |
| OMIA 000187-9913 | Chondrodysplasia | Bos taurus | cattle | EVC2 | 2002 | |
| OMIA 000189-9913 | Chondrodystrophy | Bos taurus | cattle | |||
| OMIA 000194-9913 | Citrullinaemia | Bos taurus | cattle | ASS1 | 1989 | |
| OMIA 000197-9913 | Cleft palate | Bos taurus | cattle | |||
| OMIA 000201-9913 | Coat colour, agouti | Bos taurus | cattle | ASIP | 2006 | |
| OMIA 000202-9913 | Coat colour, albinism | Bos taurus | cattle | TYR | 2004 | |
| OMIA 001821-9913 | Coat colour, albinism, oculocutaneous type IV | Bos taurus | cattle | SLC45A2 | 2017 | |
| OMIA 001249-9913 | Coat colour, brown | Bos taurus | cattle | TYRP1 | 2003 | |
| OMIA 000031-9913 | Coat colour, dilute | Bos taurus | cattle | MLPH | 2015 | |
| OMIA 000209-9913 | Coat colour, dominant white | Bos taurus | cattle | KIT | 2010 | |
| OMIA 001199-9913 | Coat colour, extension | Bos taurus | cattle | MC1R | 1995 | |
| OMIA 001216-9913 | Coat colour, roan | Bos taurus | cattle | KITLG | 1999 | |
| OMIA 001469-9913 | Coat colour, white belt | Bos taurus | cattle | TWIST2 | 2017 | |
| OMIA 000214-9913 | Coat colour, white spotting | Bos taurus | cattle | MITF | 2012 | |
| OMIA 000219-9913 | Coloboma | Bos taurus | cattle | |||
| OMIA 000313-9913 | Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia | Bos taurus | cattle | |||
| OMIA 001450-9913 | Congenital muscular dystonia 1 | Bos taurus | cattle | ATP2A1 | 2008 | |
| OMIA 001451-9913 | Congenital muscular dystonia 2 | Bos taurus | cattle | LOC528050 | 2008 | |
| OMIA 001511-9913 | Contractural arachnodactyly (Fawn calf syndrome) | Bos taurus | cattle | ADAMTSL3 | 2014 | |
| OMIA 000243-9913 | Cryptorchidism | Bos taurus | cattle | |||
| OMIA 000246-9913 | Curly coat, karakul-type | Bos taurus | cattle | KRT27 | 2014 | |
| OMIA 000249-9913 | Cyclopia | Bos taurus | cattle | |||
| OMIA 000254-9913 | Cystic ovary | Bos taurus | cattle | |||
| OMIA 000262-9913 | Deficiency of uridine monophosphate synthase | Bos taurus | cattle | UMPS | 1993 | |
| OMIA 001931-9913 | Depigmentation associated with microphthalmia | Bos taurus | cattle | MITF | 2014 | |
| OMIA 000279-9913 | Diabetes mellitus | Bos taurus | cattle | |||
| OMIA 000283-9913 | Diabetes mellitus, type I | Bos taurus | cattle | |||
| OMIA 001841-9913 | Distichiasis | Bos taurus | cattle | |||
| OMIA 001680-9913 | Dominant white with bilateral deafness | Bos taurus | cattle | MITF | 2011 | |
| OMIA 001271-9913 | Dwarfism, ACAN-related | Bos taurus | cattle | ACAN | 2007 | |
| OMIA 001485-9913 | Dwarfism, Angus | Bos taurus | cattle | PRKG2 | 2009 | |
| OMIA 001473-9913 | Dwarfism, growth-hormone deficiency | Bos taurus | cattle | GH1 | 2009 | |
| OMIA 001294-9913 | Dwarfism, growth-hormone-receptor deficiency | Bos taurus | cattle | |||
| OMIA 001323-9913 | Dwarfism, Laron | Bos taurus | cattle | |||
| OMIA 000324-9913 | Ectrodactyly | Bos taurus | cattle | |||
| OMIA 000328-9913 | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | Bos taurus | cattle | ADAMTS2 | 1999 | |
| OMIA 001803-9913 | Endocardial fibroelastosis | Bos taurus | cattle | |||
| OMIA 000340-9913 | Epidermolysis bullosa | Bos taurus | cattle | |||
| OMIA 000341-9913 | Epidermolysis bullosa, dystrophic | Bos taurus | cattle | COL7A1 | 2012 | |
| OMIA 000342-9913 | Epidermolysis bullosa, junctionalis | Bos taurus | cattle | |||
| OMIA 001948-9913 | Epidermolysis bullosa, junctionalis, ITGB4-related | Bos taurus | cattle | ITGB4 | 2015 | |
| OMIA 001677-9913 | Epidermolysis bullosa, junctionalis, LAMA3-related | Bos taurus | cattle | LAMA3 | 2015 | |
| OMIA 001678-9913 | Epidermolysis bullosa, junctionalis, LAMC2-related | Bos taurus | cattle | LAMC2 | 2015 | |
| OMIA 002082-9913 | Epidermolysis bullosa, simplex | Bos taurus | cattle | |||
| OMIA 002081-9913 | Epidermolysis bullosa, simplex, KRT5-related | Bos taurus | cattle | KRT5 | 2005 | |
| OMIA 000344-9913 | Epilepsy | Bos taurus | cattle |
Gene not yet published |
||
| OMIA 000346-9913 | Epistaxis | Bos taurus | cattle | |||
| OMIA 000348-9913 | Epitheliogenesis imperfecta | Bos taurus | cattle | |||
| OMIA 000353-9913 | Exophthalmos with strabismus | Bos taurus | cattle | |||
| OMIA 002090-9913 | Facial dysplasia syndrome | Bos taurus | cattle | FGFR2 | 2017 | |
| OMIA 000363-9913 | Factor XI deficiency | Bos taurus | cattle | F11 | 2000 | |
| OMIA 001818-9913 | Factor XIII deficiency | Bos taurus | cattle | |||
| OMIA 000366-9913 | Fanconi syndrome | Bos taurus | cattle | SLC2A2 | 2016 | |
| OMIA 000391-9913 | Fragile X | Bos taurus | cattle | |||
| OMIA 000402-9913 | Gangliosidosis, GM1 | Bos taurus | cattle | |||
| OMIA 000419-9913 | Glycogen storage disease II | Bos taurus | cattle | GAA | 2000 | |
| OMIA 001139-9913 | Glycogen storage disease V | Bos taurus | cattle | PYGM | 1996 | |
| OMIA 000424-9913 | Goitre, familial | Bos taurus | cattle | TG | 1987 | |
| OMIA 001958-9913 | Growth retardation due to haplotype FH2 | Bos taurus | cattle | |||
| OMIA 001813-9913 | Haemangiosarcoma | Bos taurus | cattle | |||
| OMIA 000428-9913 | Haemochromatosis | Bos taurus | cattle | |||
| OMIA 000437-9913 | Haemophilia A | Bos taurus | cattle | F8 | 2009 | |
| OMIA 000726-9913 | Hemeralopia | Bos taurus | cattle | |||
| OMIA 001191-9913 | Hemivertebrae | Bos taurus | cattle | |||
| OMIA 000454-9913 | Hepatic fibrosis, idiopathic | Bos taurus | cattle | |||
| OMIA 000462-9913 | Hernia, inguinal | Bos taurus | cattle | |||
| OMIA 000468-9913 | Heterochromia irides/iridis | Bos taurus | cattle | |||
| OMIA 000473-9913 | Hip dysplasia | Bos taurus | cattle | |||
| OMIA 001965-9913 | Holstein cholesterol deficiency | Bos taurus | cattle | APOB | 2016 | |
| OMIA 001197-9913 | Horner syndrome | Bos taurus | cattle | |||
| OMIA 000487-9913 | Hydrocephalus | Bos taurus | cattle |
Gene not yet published |
||
| OMIA 000493-9913 | Hydrops foetalis | Bos taurus | cattle | |||
| OMIA 001107-9913 | Hymen, imperforate | Bos taurus | cattle | |||
| OMIA 000495-9913 | Hyperbilirubinaemia, unclassified | Bos taurus | cattle | |||
| OMIA 001231-9913 | Hyperhidrosis | Bos taurus | cattle | |||
| OMIA 002052-9913 | Hyperphosphatemia | Bos taurus | cattle | |||
| OMIA 002048-9913 | Hypocalcemia, subclinical | Bos taurus | cattle | |||
| OMIA 002051-9913 | Hypokalemia | Bos taurus | cattle | |||
| OMIA 002050-9913 | Hypomagnesemia, subclinical | Bos taurus | cattle | |||
| OMIA 001184-9913 | Hypophosphataemia | Bos taurus | cattle | |||
| OMIA 001187-9913 | Hypospadias | Bos taurus | cattle | |||
| OMIA 000540-9913 | Hypotrichosis | Bos taurus | cattle | HEPHL1 | 2012 | |
| OMIA 002114-9913 | Hypotrichosis, KRT71-related | Bos taurus | cattle | KRT71 | 2010 | |
| OMIA 000547-9913 | Ichthyosis congenita | Bos taurus | cattle | ABCA12 | 2008 | |
| OMIA 002047-9913 | Intersex: XX, SRY-positive | Bos taurus | cattle | |||
| OMIA 001227-9913 | Intussusception | Bos taurus | cattle | |||
| OMIA 000595-9913 | Leukocyte adhesion deficiency, type I | Bos taurus | cattle | ITGB2 | 1992 | |
| OMIA 000621-9913 | Malignant hyperthermia | Bos taurus | cattle | |||
| OMIA 000625-9913 | Mannosidosis, alpha | Bos taurus | cattle | MAN2B1 | 1997 | |
| OMIA 000626-9913 | Mannosidosis, beta | Bos taurus | cattle | MANBA | 1999 | |
| OMIA 000627-9913 | Maple syrup urine disease | Bos taurus | cattle | BCKDHA | 1990 | |
| OMIA 000628-9913 | Marfan syndrome | Bos taurus | cattle | FBN1 | 2005 | |
| OMIA 000629-9913 | Megacolon | Bos taurus | cattle | |||
| OMIA 000664-9913 | Mucopolysaccharidosis I | Bos taurus | cattle | |||
| OMIA 001342-9913 | Mucopolysaccharidosis IIIB | Bos taurus | cattle | NAGLU | 2007 | |
| OMIA 000685-9913 | Myasthenic syndrome, congenital, CHRNE-related | Bos taurus | cattle | CHRNE | 2002 | |
| OMIA 000689-9913 | Myoclonus | Bos taurus | cattle | GLRA1 | 2001 | |
| OMIA 000690-9913 | Myoclonus epilepsy of Lafora | Bos taurus | cattle | |||
| OMIA 001319-9913 | Myopathy of the diaphragmatic muscles | Bos taurus | cattle | HSPA1A | 2003 | |
| OMIA 000698-9913 | Myotonia | Bos taurus | cattle | |||
| OMIA 001097-9913 | Necrotising encephalopathy, subacute, of Leigh | Bos taurus | cattle | |||
| OMIA 002125-9913 | Neurocristopathy | Bos taurus | cattle | CHD7 | 2017 | |
| OMIA 000716-9913 | Neurofibromatosis | Bos taurus | cattle | |||
| OMIA 001482-9913 | Neuronal ceroid lipofuscinosis, 5 | Bos taurus | cattle | CLN5 | 2006 | |
| OMIA 000181-9913 | Neuronal Ceroid Lipofuscinosis, generic | Bos taurus | cattle | |||
| OMIA 001795-9913 | Niemann-Pick disease, type A | Bos taurus | cattle | |||
| OMIA 000729-9913 | Nipples, inverted | Bos taurus | cattle | |||
| OMIA 000735-9913 | Ocular squamous cell carcinoma | Bos taurus | cattle | |||
| OMIA 000741-9913 | Omphalocele | Bos taurus | cattle | |||
| OMIA 000747-9913 | Osteoarthritis | Bos taurus | cattle | |||
| OMIA 000750-9913 | Osteochondrosis | Bos taurus | cattle | |||
| OMIA 000753-9913 | Osteodystrophy | Bos taurus | cattle | |||
| OMIA 000754-9913 | Osteogenesis imperfecta, generic | Bos taurus | cattle | |||
| OMIA 002127-9913 | Osteogenesis imperfecta, type II, COL1A1-related | Bos taurus | cattle | COL1A1 | 2017 | |
| OMIA 000755-9913 | Osteopetrosis | Bos taurus | cattle | SLC4A2 | 2010 | |
| OMIA 001887-9913 | Osteopetrosis with gingival hamartomas | Bos taurus | cattle | CLCN7 | 2014 | |
| OMIA 001266-9913 | Otitis media, susceptibility to | Bos taurus | cattle | |||
| OMIA 001127-9913 | Otocephaly | Bos taurus | cattle | |||
| OMIA 001230-9913 | Ovotesticular DSD (Disorder of Sexual Development) | Bos taurus | cattle | SRY | 1996 | |
| OMIA 001147-9913 | Papillomatosis, cutaneous | Bos taurus | cattle | |||
| OMIA 000779-9913 | Patent ductus arteriosus | Bos taurus | cattle | |||
| OMIA 001188-9913 | Pemphigus | Bos taurus | cattle | |||
| OMIA 000786-9913 | Peromelia | Bos taurus | cattle | |||
| OMIA 001218-9913 | Persistent truncus arteriosus with ventricular septal defect and patent foramen ovale | Bos taurus | cattle | |||
| OMIA 001736-9913 | Polled and multisystemic syndrome | Bos taurus | cattle | ZEB2 | 2012 | |
| OMIA 000483-9913 | Polled/Horns | Bos taurus | cattle | POLLED | 2012 | |
| OMIA 000809-9913 | Polycythemia | Bos taurus | cattle | |||
| OMIA 000810-9913 | Polydactyly | Bos taurus | cattle | |||
| OMIA 001175-9913 | Porphyria, congenital erythropoietic | Bos taurus | cattle | |||
| OMIA 000817-9913 | Portosystemic shunt | Bos taurus | cattle | |||
| OMIA 000823-9913 | Prognathism | Bos taurus | cattle | |||
| OMIA 000834-9913 | Protamine-2 deficiency | Bos taurus | cattle | |||
| OMIA 000836-9913 | Protoporphyria | Bos taurus | cattle | FECH | 1998 | |
| OMIA 001464-9913 | Pseudomyotonia, congenital | Bos taurus | cattle | ATP2A1 | 2008 | |
| OMIA 001934-9913 | Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) | Bos taurus | cattle | UBE3B | 2014 | |
| OMIA 000841-9913 | Pulmonary hypertension | Bos taurus | cattle | |||
| OMIA 001691-9913 | Recombination rate | Bos taurus | cattle | |||
| OMIA 001135-9913 | Renal dysplasia | Bos taurus | cattle | CLDN16 | 2000 | |
| OMIA 002029-9913 | Retinitis pigmentosa 1 | Bos taurus | cattle | RP1 | 2016 | |
| OMIA 001921-9913 | Rhabdomyosarcoma, embryonal | Bos taurus | cattle | |||
| OMIA 001963-9913 | Schwannomatosis | Bos taurus | cattle | |||
| OMIA 001593-9913 | Scurs, type 2 | Bos taurus | cattle | TWIST1 | 2011 | |
| OMIA 001102-9913 | Situs inversus | Bos taurus | cattle | |||
| OMIA 000928-9913 | Spastic paresis | Bos taurus | cattle | |||
| OMIA 001334-9913 | Sperm, short tail | Bos taurus | cattle | ARMC3 | 2016 | |
| OMIA 001228-9913 | Spherocytosis | Bos taurus | cattle | SLC4A1 | 1996 | |
| OMIA 000933-9913 | Spina bifida | Bos taurus | cattle | |||
| OMIA 001247-9913 | Spinal dysmyelination | Bos taurus | cattle | SPAST | 2010 | |
| OMIA 000939-9913 | Spinal muscular atrophy | Bos taurus | cattle | KDSR | 2007 | |
| OMIA 000944-9913 | Spongiform encephalopathy | Bos taurus | cattle | PRNP | 2008 | |
| OMIA 001156-9913 | Spongiform myelopathy | Bos taurus | cattle | |||
| OMIA 000963-9913 | Syndactyly (mule foot) | Bos taurus | cattle | LRP4 | 2006 | |
| OMIA 002150-9913 | Syndrome des veaux tourneurs (Turning calves syndrome) | Bos taurus | cattle | SLC25A46 | 2017 | |
| OMIA 000965-9913 | Syringomyelia | Bos taurus | cattle | |||
| OMIA 000975-9913 | Tail, short | Bos taurus | cattle | |||
| OMIA 000985-9913 | Teat/nipple number | Bos taurus | cattle | |||
| OMIA 000994-9913 | Tetralogy of fallot | Bos taurus | cattle | |||
| OMIA 001001-9913 | Thrombocytopenia | Bos taurus | cattle | |||
| OMIA 001003-9913 | Thrombopathia | Bos taurus | cattle | RASGRP2 | 2007 | |
| OMIA 001009-9913 | Tibial hemimelia | Bos taurus | cattle | ALX4 | 2012 | |
| OMIA 001491-9913 | Tomaculous neuropathy | Bos taurus | cattle | |||
| OMIA 002109-9913 | Tricho-dento-osseous-like syndrome | Bos taurus | cattle | DLX3 | 2017 | |
| OMIA 001360-9913 | Trimethylaminuria (fishy taint) | Bos taurus | cattle | FMO3 | 2002 | |
| OMIA 001856-9913 | Tuberculosis, susceptibility/resistance to | Bos taurus | cattle | |||
| OMIA 001033-9913 | Urolithiasis | Bos taurus | cattle | |||
| OMIA 001041-9913 | Ventricular septal defect | Bos taurus | cattle | |||
| OMIA 001951-9913 | Vertebral and spinal dysplasia | Bos taurus | cattle | T | 2015 | |
| OMIA 001055-9913 | Vitiligo | Bos taurus | cattle | |||
| OMIA 001056-9913 | Von Willebrand disease, generic | Bos taurus | cattle | |||
| OMIA 001142-9913 | Wilms tumour | Bos taurus | cattle | |||
| OMIA 001071-9913 | Wilson disease | Bos taurus | cattle | |||
| OMIA 001194-9913 | Wolff-Parkinson-White syndrome | Bos taurus | cattle | |||
| OMIA 001819-9913 | Xanthinuria, type II | Bos taurus | cattle | MOCOS | 2000 |