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206 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First Reported
OMIA 002041-9913Abortion (embryonic lethality), RPIA-relatedBos tauruscattle RPIA 2016
OMIA 000001-9913Abortion due to haplotype HH1Bos tauruscattle APAF1 2012
OMIA 001826-9913Abortion due to haplotype HH4Bos tauruscattle GART 2013
OMIA 001827-9913Abortion due to haplotype MH1Bos tauruscattle PFAS 2013
OMIA 001828-9913Abortion due to haplotype MH2Bos tauruscattle SLC37A2 2013
OMIA 001926-9913Achondrogenesis, type IIBos tauruscattle COL2A1 2014
OMIA 000593-9913Acrodermatitis enteropathicaBos tauruscattle SLC39A4 2002
OMIA 000021-9913Agenesis of corpus callosumBos tauruscattle
OMIA 000022-9913AgnathiaBos tauruscattle
OMIA 001702-9913Alopecia areataBos tauruscattle
OMIA 000030-9913Alopecia, genericBos tauruscattle
OMIA 000038-9913Amyloidosis, AABos tauruscattle
OMIA 000991-9913Androgen insensitivity syndrome (AIS)Bos tauruscattle
OMIA 000044-9913AnencephalyBos tauruscattle
OMIA 000543-9913Anhidrotic ectodermal dysplasia, EDA-relatedBos tauruscattle EDA 2001
OMIA 002128-9913Anhidrotic ectodermal dysplasia, EDAR-relatedBos tauruscattle EDAR 2017
OMIA 001541-9913Arachnomelia, BTA23Bos tauruscattle MOCS1 2011
OMIA 000061-9913Arnold-Chiari malformationBos tauruscattle
OMIA 002022-9913Arthrogryposis multiplex congenita, CHRNB1-relatedBos tauruscattle CHRNB1 2016
OMIA 001978-9913Arthrogryposis, distal, type 1BBos tauruscattle MYBPC1 2015
OMIA 000069-9913Arthrogryposis, genericBos tauruscattle
OMIA 001169-9913AscitesBos tauruscattle
OMIA 000077-9913Ataxia, genericBos tauruscattle
OMIA 000085-9913Atresia coliBos tauruscattle
OMIA 000089-9913Atrial septal defectBos tauruscattle
OMIA 001502-9913Caprine-like Generalized Hypoplasia SyndromeBos tauruscattle CEP250 2015
OMIA 000162-9913Cardiomyopathy, dilatedBos tauruscattle OPA3 2011
OMIA 000515-9913Cardiomyopathy, hypertrophicBos tauruscattle
OMIA 002111-9913Cataract, recessive, CPAMD8-relatedBos tauruscattle CPAMD8 2017
OMIA 001936-9913Cataract, recessive, NID1-relatedBos tauruscattle NID1 2014
OMIA 000175-9913Cerebellar abiotrophyBos tauruscattle
OMIA 000179-9913Cerebellar hypoplasiaBos tauruscattle
OMIA 000185-9913Chediak-Higashi syndromeBos tauruscattle LYST 1999
OMIA 000187-9913ChondrodysplasiaBos tauruscattle EVC2 2002
OMIA 000189-9913ChondrodystrophyBos tauruscattle
OMIA 000194-9913CitrullinaemiaBos tauruscattle ASS1 1989
OMIA 000197-9913Cleft palateBos tauruscattle
OMIA 000201-9913Coat colour, agoutiBos tauruscattle ASIP 2006
OMIA 000202-9913Coat colour, albinismBos tauruscattle TYR 2004
OMIA 001821-9913Coat colour, albinism, oculocutaneous type IVBos tauruscattle SLC45A2 2017
OMIA 001249-9913Coat colour, brownBos tauruscattle TYRP1 2003
OMIA 000031-9913Coat colour, diluteBos tauruscattle MLPH 2015
OMIA 000209-9913Coat colour, dominant whiteBos tauruscattle KIT 2010
OMIA 001199-9913Coat colour, extensionBos tauruscattle MC1R 1995
OMIA 001216-9913Coat colour, roanBos tauruscattle KITLG 1999
OMIA 001469-9913Coat colour, white beltBos tauruscattle TWIST2 2017
OMIA 000214-9913Coat colour, white spottingBos tauruscattle MITF 2012
OMIA 000219-9913ColobomaBos tauruscattle
OMIA 000313-9913Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopeciaBos tauruscattle
OMIA 001450-9913Congenital muscular dystonia 1Bos tauruscattle ATP2A1 2008
OMIA 001451-9913Congenital muscular dystonia 2Bos tauruscattle LOC528050 2008
OMIA 001511-9913Contractural arachnodactyly (Fawn calf syndrome)Bos tauruscattle ADAMTSL3 2014
OMIA 000243-9913CryptorchidismBos tauruscattle
OMIA 000245-9913Curly coatBos tauruscattle
OMIA 000249-9913CyclopiaBos tauruscattle
OMIA 000254-9913Cystic ovaryBos tauruscattle
OMIA 000262-9913Deficiency of uridine monophosphate synthaseBos tauruscattle UMPS 1993
OMIA 001931-9913Depigmentation associated with microphthalmiaBos tauruscattle MITF 2014
OMIA 000279-9913Diabetes mellitusBos tauruscattle
OMIA 000283-9913Diabetes mellitus, type IBos tauruscattle
OMIA 001841-9913DistichiasisBos tauruscattle
OMIA 001680-9913Dominant white with bilateral deafnessBos tauruscattle MITF 2011
OMIA 001271-9913Dwarfism, ACAN-relatedBos tauruscattle ACAN 2007
OMIA 001485-9913Dwarfism, AngusBos tauruscattle PRKG2 2009
OMIA 001473-9913Dwarfism, growth-hormone deficiencyBos tauruscattle GH1 2009
OMIA 001294-9913Dwarfism, growth-hormone-receptor deficiencyBos tauruscattle
OMIA 001323-9913Dwarfism, LaronBos tauruscattle
OMIA 000324-9913EctrodactylyBos tauruscattle
OMIA 000328-9913Ehlers-Danlos syndrome, type VII (Dermatosparaxis)Bos tauruscattle ADAMTS2 1999
OMIA 001803-9913Endocardial fibroelastosisBos tauruscattle
OMIA 000340-9913Epidermolysis bullosaBos tauruscattle
OMIA 000341-9913Epidermolysis bullosa, dystrophicBos tauruscattle COL7A1 2012
OMIA 000342-9913Epidermolysis bullosa, junctionalisBos tauruscattle
OMIA 001948-9913Epidermolysis bullosa, junctionalis, ITGB4-relatedBos tauruscattle ITGB4 2015
OMIA 001677-9913Epidermolysis bullosa, junctionalis, LAMA3-relatedBos tauruscattle LAMA3 2015
OMIA 001678-9913Epidermolysis bullosa, junctionalis, LAMC2-relatedBos tauruscattle LAMC2 2015
OMIA 002082-9913Epidermolysis bullosa, simplexBos tauruscattle
OMIA 002081-9913Epidermolysis bullosa, simplex, KRT5-relatedBos tauruscattle KRT5 2005
OMIA 000344-9913EpilepsyBos tauruscattle

Gene not yet published

OMIA 000346-9913EpistaxisBos tauruscattle
OMIA 000348-9913Epitheliogenesis imperfectaBos tauruscattle
OMIA 000353-9913Exophthalmos with strabismusBos tauruscattle
OMIA 002090-9913Facial dysplasia syndromeBos tauruscattle FGFR2 2017
OMIA 000363-9913Factor XI deficiencyBos tauruscattle F11 2000
OMIA 001818-9913Factor XIII deficiencyBos tauruscattle
OMIA 000366-9913Fanconi syndromeBos tauruscattle SLC2A2 2016
OMIA 000391-9913Fragile XBos tauruscattle
OMIA 000402-9913Gangliosidosis, GM1Bos tauruscattle
OMIA 000419-9913Glycogen storage disease IIBos tauruscattle GAA 2000
OMIA 001139-9913Glycogen storage disease VBos tauruscattle PYGM 1996
OMIA 000424-9913Goitre, familialBos tauruscattle TG 1987
OMIA 001958-9913Growth retardation due to haplotype FH2Bos tauruscattle
OMIA 001813-9913HaemangiosarcomaBos tauruscattle
OMIA 000428-9913HaemochromatosisBos tauruscattle
OMIA 000437-9913Haemophilia ABos tauruscattle F8 2009
OMIA 000726-9913HemeralopiaBos tauruscattle
OMIA 001191-9913HemivertebraeBos tauruscattle
OMIA 000454-9913Hepatic fibrosis, idiopathicBos tauruscattle
OMIA 000462-9913Hernia, inguinalBos tauruscattle
OMIA 000468-9913Heterochromia irides/iridisBos tauruscattle
OMIA 000473-9913Hip dysplasiaBos tauruscattle
OMIA 001965-9913Holstein cholesterol deficiency Bos tauruscattle APOB 2016
OMIA 001197-9913Horner syndromeBos tauruscattle
OMIA 000487-9913HydrocephalusBos tauruscattle

Gene not yet published

OMIA 000493-9913Hydrops foetalisBos tauruscattle
OMIA 001107-9913Hymen, imperforateBos tauruscattle
OMIA 000495-9913Hyperbilirubinaemia, unclassifiedBos tauruscattle
OMIA 001231-9913HyperhidrosisBos tauruscattle
OMIA 002052-9913HyperphosphatemiaBos tauruscattle
OMIA 002048-9913Hypocalcemia, subclinicalBos tauruscattle
OMIA 002051-9913HypokalemiaBos tauruscattle
OMIA 002050-9913Hypomagnesemia, subclinicalBos tauruscattle
OMIA 001184-9913HypophosphataemiaBos tauruscattle
OMIA 001187-9913HypospadiasBos tauruscattle
OMIA 000540-9913HypotrichosisBos tauruscattle HEPHL1 2012
OMIA 002114-9913Hypotrichosis, KRT71-relatedBos tauruscattle KRT71 2010
OMIA 000547-9913Ichthyosis congenitaBos tauruscattle ABCA12 2008
OMIA 002047-9913Intersex: XX, SRY-positiveBos tauruscattle
OMIA 001227-9913IntussusceptionBos tauruscattle
OMIA 000595-9913Leukocyte adhesion deficiency, type IBos tauruscattle ITGB2 1992
OMIA 000621-9913Malignant hyperthermiaBos tauruscattle
OMIA 000625-9913Mannosidosis, alphaBos tauruscattle MAN2B1 1997
OMIA 000626-9913Mannosidosis, betaBos tauruscattle MANBA 1999
OMIA 000627-9913Maple syrup urine diseaseBos tauruscattle BCKDHA 1990
OMIA 000628-9913Marfan syndromeBos tauruscattle FBN1 2005
OMIA 000629-9913MegacolonBos tauruscattle
OMIA 000664-9913Mucopolysaccharidosis IBos tauruscattle
OMIA 001342-9913Mucopolysaccharidosis IIIBBos tauruscattle NAGLU 2007
OMIA 000685-9913Myasthenic syndrome, congenital, CHRNE-relatedBos tauruscattle CHRNE 2002
OMIA 000689-9913MyoclonusBos tauruscattle GLRA1 2001
OMIA 000690-9913Myoclonus epilepsy of LaforaBos tauruscattle
OMIA 001319-9913Myopathy of the diaphragmatic musclesBos tauruscattle HSPA1A 2003
OMIA 000698-9913MyotoniaBos tauruscattle
OMIA 001097-9913Necrotising encephalopathy, subacute, of LeighBos tauruscattle
OMIA 002125-9913NeurocristopathyBos tauruscattle CHD7 2017
OMIA 000716-9913NeurofibromatosisBos tauruscattle
OMIA 001482-9913Neuronal ceroid lipofuscinosis, 5Bos tauruscattle CLN5 2006
OMIA 000181-9913Neuronal Ceroid Lipofuscinosis, genericBos tauruscattle
OMIA 001795-9913Niemann-Pick disease, type ABos tauruscattle
OMIA 000729-9913Nipples, invertedBos tauruscattle
OMIA 000735-9913Ocular squamous cell carcinomaBos tauruscattle
OMIA 000741-9913OmphaloceleBos tauruscattle
OMIA 000747-9913OsteoarthritisBos tauruscattle
OMIA 000750-9913OsteochondrosisBos tauruscattle
OMIA 000753-9913OsteodystrophyBos tauruscattle
OMIA 000754-9913Osteogenesis imperfecta, genericBos tauruscattle
OMIA 002127-9913Osteogenesis imperfecta, type II, COL1A1-relatedBos tauruscattle COL1A1 2017
OMIA 000755-9913OsteopetrosisBos tauruscattle SLC4A2 2010
OMIA 001887-9913Osteopetrosis with gingival hamartomasBos tauruscattle CLCN7 2014
OMIA 001266-9913Otitis media, susceptibility toBos tauruscattle
OMIA 001127-9913OtocephalyBos tauruscattle
OMIA 001230-9913Ovotesticular DSD (Disorder of Sexual Development)Bos tauruscattle SRY 1996
OMIA 001147-9913Papillomatosis, cutaneousBos tauruscattle
OMIA 000779-9913Patent ductus arteriosusBos tauruscattle
OMIA 001188-9913PemphigusBos tauruscattle
OMIA 000786-9913PeromeliaBos tauruscattle
OMIA 001218-9913Persistent truncus arteriosus with ventricular septal defect and patent foramen ovaleBos tauruscattle
OMIA 001736-9913Polled and multisystemic syndromeBos tauruscattle ZEB2 2012
OMIA 000483-9913Polled/HornsBos tauruscattle POLL 2012
OMIA 000809-9913PolycythemiaBos tauruscattle
OMIA 000810-9913PolydactylyBos tauruscattle
OMIA 001175-9913Porphyria, congenital erythropoieticBos tauruscattle
OMIA 000817-9913Portosystemic shuntBos tauruscattle
OMIA 000823-9913PrognathismBos tauruscattle
OMIA 000834-9913Protamine-2 deficiencyBos tauruscattle
OMIA 000836-9913ProtoporphyriaBos tauruscattle FECH 1998
OMIA 001464-9913Pseudomyotonia, congenitalBos tauruscattle ATP2A1 2008
OMIA 001934-9913Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndromeBos tauruscattle UBE3B 2014
OMIA 000841-9913Pulmonary hypertensionBos tauruscattle
OMIA 001691-9913Recombination rateBos tauruscattle
OMIA 001135-9913Renal dysplasiaBos tauruscattle CLDN16 2000
OMIA 002029-9913Retinitis pigmentosa 1Bos tauruscattle RP1 2016
OMIA 001921-9913Rhabdomyosarcoma, embryonalBos tauruscattle
OMIA 001963-9913SchwannomatosisBos tauruscattle
OMIA 001593-9913Scurs, type 2Bos tauruscattle TWIST1 2011
OMIA 001102-9913Situs inversusBos tauruscattle
OMIA 000928-9913Spastic paresisBos tauruscattle
OMIA 001334-9913Sperm, short tailBos tauruscattle ARMC3 2016
OMIA 001228-9913SpherocytosisBos tauruscattle SLC4A1 1996
OMIA 000933-9913Spina bifidaBos tauruscattle
OMIA 001247-9913Spinal dysmyelinationBos tauruscattle SPAST 2010
OMIA 000939-9913Spinal muscular atrophyBos tauruscattle KDSR 2007
OMIA 000944-9913Spongiform encephalopathyBos tauruscattle PRNP 2008
OMIA 001156-9913Spongiform myelopathyBos tauruscattle
OMIA 000963-9913Syndactyly (mule foot)Bos tauruscattle LRP4 2006
OMIA 002150-9913Syndrome des veaux tourneurs (Turning calves syndrome)Bos tauruscattle SLC25A46 2017
OMIA 000965-9913SyringomyeliaBos tauruscattle
OMIA 000975-9913Tail, shortBos tauruscattle
OMIA 000985-9913Teat/nipple numberBos tauruscattle
OMIA 000994-9913Tetralogy of fallotBos tauruscattle
OMIA 001001-9913ThrombocytopeniaBos tauruscattle
OMIA 001003-9913ThrombopathiaBos tauruscattle RASGRP2 2007
OMIA 001009-9913Tibial hemimeliaBos tauruscattle ALX4 2012
OMIA 001491-9913Tomaculous neuropathyBos tauruscattle
OMIA 002109-9913Tricho-dento-osseous-like syndromeBos tauruscattle DLX3 2017
OMIA 001360-9913Trimethylaminuria (fishy taint)Bos tauruscattle FMO3 2002
OMIA 001856-9913Tuberculosis, susceptibility/resistance toBos tauruscattle
OMIA 001033-9913UrolithiasisBos tauruscattle
OMIA 001041-9913Ventricular septal defectBos tauruscattle
OMIA 001951-9913Vertebral and spinal dysplasiaBos tauruscattle T 2015
OMIA 001055-9913VitiligoBos tauruscattle
OMIA 001056-9913Von Willebrand disease, genericBos tauruscattle
OMIA 001142-9913Wilms tumourBos tauruscattle
OMIA 001071-9913Wilson diseaseBos tauruscattle
OMIA 001194-9913Wolff-Parkinson-White syndromeBos tauruscattle
OMIA 001819-9913Xanthinuria, type IIBos tauruscattle MOCOS 2000