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246 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 002134-9913 Abortion due to haplotype AH2Bos tauruscattle RPAP2 2017
OMIA 002033-9913A2 milkBos tauruscattle CSN2
OMIA 002083-9913Abortion (embryonic lethality), ANXA10-relatedBos tauruscattle ANXA10 2016
OMIA 002042-9913Abortion (embryonic lethality), EXOSC4-relatedBos tauruscattle EXOSC4 2016
OMIA 002043-9913Abortion (embryonic lethality), MED22-relatedBos tauruscattle MED22 2016
OMIA 002039-9913Abortion (embryonic lethality), MYH6-relatedBos tauruscattle MYH6 2016
OMIA 002035-9913Abortion (embryonic lethality), OBFC1-relatedBos tauruscattle OBFC1 2016
OMIA 002037-9913Abortion (embryonic lethality), RABGGTB-relatedBos tauruscattle RABGGTB 2016
OMIA 002038-9913Abortion (embryonic lethality), RNF20-relatedBos tauruscattle RNF20 2016
OMIA 002041-9913Abortion (embryonic lethality), RPIA-relatedBos tauruscattle RPIA 2016
OMIA 002040-9913Abortion (embryonic lethality), SNAPC4-relatedBos tauruscattle SNAPC4 2016
OMIA 002036-9913Abortion (embryonic lethality), TTF1-relatedBos tauruscattle TTF1 2016
OMIA 001565-9913Abortion and stillbirth, MIMT1-relatedBos tauruscattle MIMT1 2010
OMIA 001907-9913Abortion due to haplotype 05-1351 and haplotype 05-1476Bos tauruscattle
OMIA 001906-9913Abortion due to haplotype 05-826Bos tauruscattle
OMIA 001908-9913Abortion due to haplotype 07-126Bos tauruscattle
OMIA 001909-9913Abortion due to haplotype 07-501Bos tauruscattle
OMIA 001910-9913Abortion due to haplotype 11-926, 11-976, 11-1001 and 11,1026Bos tauruscattle
OMIA 001911-9913Abortion due to haplotype 19-151Bos tauruscattle
OMIA 001825-9913Abortion due to haplotype BH1Bos tauruscattle
OMIA 001939-9913Abortion due to haplotype BH2Bos tauruscattle TUBD1 2016
OMIA 001957-9913Abortion due to haplotype FH1Bos tauruscattle
OMIA 001959-9913Abortion due to haplotype FH3Bos tauruscattle
OMIA 001960-9913Abortion due to haplotype FH4Bos tauruscattle SUGT1 2015
OMIA 000001-9913Abortion due to haplotype HH1Bos tauruscattle APAF1 2012
OMIA 001834-9913Abortion due to haplotype HH10Bos tauruscattle
OMIA 001833-9913Abortion due to haplotype HH11Bos tauruscattle
OMIA 001835-9913Abortion due to haplotype HH12Bos tauruscattle
OMIA 001836-9913Abortion due to haplotype HH13Bos tauruscattle
OMIA 001837-9913Abortion due to haplotype HH14Bos tauruscattle
OMIA 001838-9913Abortion due to haplotype HH15Bos tauruscattle
OMIA 001839-9913Abortion due to haplotype HH16Bos tauruscattle
OMIA 001840-9913Abortion due to haplotype HH17Bos tauruscattle
OMIA 001823-9913Abortion due to haplotype HH2Bos tauruscattle
OMIA 001824-9913Abortion due to haplotype HH3Bos tauruscattle SMC2 2013
OMIA 001826-9913Abortion due to haplotype HH4Bos tauruscattle GART 2013
OMIA 001941-9913Abortion due to haplotype HH5Bos tauruscattle TFB1M 2016
OMIA 002149-9913Abortion due to haplotype HH6Bos tauruscattle SDE2 2018
OMIA 001830-9913Abortion due to haplotype HH7Bos tauruscattle CENPU 2018
OMIA 001831-9913Abortion due to haplotype HH8Bos tauruscattle
OMIA 001832-9913Abortion due to haplotype HH9Bos tauruscattle
OMIA 001697-9913Abortion due to haplotype JH1Bos tauruscattle CWC15 2012
OMIA 001942-9913Abortion due to haplotype JH2Bos tauruscattle
OMIA 001827-9913Abortion due to haplotype MH1Bos tauruscattle PFAS 2013
OMIA 001849-9913Abortion due to haplotype MH10Bos tauruscattle
OMIA 001850-9913Abortion due to haplotype MH11Bos tauruscattle
OMIA 001828-9913Abortion due to haplotype MH2Bos tauruscattle SLC37A2 2013
OMIA 001842-9913Abortion due to haplotype MH3Bos tauruscattle
OMIA 001843-9913Abortion due to haplotype MH4Bos tauruscattle
OMIA 001844-9913Abortion due to haplotype MH5Bos tauruscattle
OMIA 001845-9913Abortion due to haplotype MH6Bos tauruscattle
OMIA 001846-9913Abortion due to haplotype MH7Bos tauruscattle
OMIA 001847-9913Abortion due to haplotype MH8Bos tauruscattle
OMIA 001848-9913Abortion due to haplotype MH9Bos tauruscattle
OMIA 001851-9913Abortion due to haplotype NH1Bos tauruscattle
OMIA 001852-9913Abortion due to haplotype NH2Bos tauruscattle
OMIA 001853-9913Abortion due to haplotype NH3Bos tauruscattle
OMIA 001854-9913Abortion due to haplotype NH4Bos tauruscattle
OMIA 001829-9913Abortion due to haplotype NH5Bos tauruscattle
OMIA 001855-9913Abortion due to haplotype NH6Bos tauruscattle
OMIA 001901-9913Abortion, RNASEH2B-relatedBos tauruscattle RNASEH2B 2014
OMIA 001926-9913Achondrogenesis, type IIBos tauruscattle COL2A1 2014
OMIA 000004-9913AchondroplasiaBos tauruscattle
OMIA 000593-9913Acrodermatitis enteropathicaBos tauruscattle SLC39A4 2002
OMIA 000010-9913Acroteriasis congenitaBos tauruscattle
OMIA 000036-9913AmputatedBos tauruscattle
OMIA 000991-9913Androgen insensitivity syndrome (AIS)Bos tauruscattle
OMIA 000543-9913Anhidrotic ectodermal dysplasia, EDA-relatedBos tauruscattle EDA 2001
OMIA 002128-9913Anhidrotic ectodermal dysplasia, EDAR-relatedBos tauruscattle EDAR 2017
OMIA 000047-9913Ankylosis, generalisedBos tauruscattle
OMIA 001556-9913Ankylosis, jawBos tauruscattle
OMIA 001541-9913Arachnomelia, BTA23Bos tauruscattle MOCS1 2011
OMIA 000059-9913Arachnomelia, BTA5Bos tauruscattle SUOX 2010
OMIA 002135-9913Arthrogryposis multiplex congenita, AGRN-relatedBos tauruscattle AGRN 2011
OMIA 002022-9913Arthrogryposis multiplex congenita, CHRNB1-relatedBos tauruscattle CHRNB1 2016
OMIA 001978-9913Arthrogryposis, distal, type 1BBos tauruscattle MYBPC1 2015
OMIA 001953-9913Arthrogryposis, lethal syndromeBos tauruscattle PIGH 2015
OMIA 000083-9913Atresia aniBos tauruscattle
OMIA 001106-9913AxonopathyBos tauruscattle MFN2 2011
OMIA 001437-9913Beta-lactoglobulin, aberrant low expressionBos tauruscattle PAEP 2006
OMIA 000117-9913Blood group system ABos tauruscattle
OMIA 000120-9913Blood group system BBos tauruscattle
OMIA 000121-9913Blood group system CBos tauruscattle
OMIA 000124-9913Blood group system FBos tauruscattle
OMIA 000130-9913Blood group system JBos tauruscattle
OMIA 000132-9913Blood group system LBos tauruscattle
OMIA 000133-9913Blood group system MBos tauruscattle
OMIA 001629-9913Blood group system N'Bos tauruscattle
OMIA 001630-9913Blood group system R'Bos tauruscattle
OMIA 000139-9913Blood group system SBos tauruscattle
OMIA 001631-9913Blood group system T'Bos tauruscattle
OMIA 001632-9913Blood group system ZBos tauruscattle
OMIA 000151-9913BrachyspinaBos tauruscattle FANCI 2012
OMIA 001502-9913Caprine-like Generalized Hypoplasia SyndromeBos tauruscattle CEP250 2015
OMIA 000160-9913CardiomyopathyBos tauruscattle
OMIA 000161-9913Cardiomyopathy and woolly haircoat syndromeBos tauruscattle PPP1R13L 2009
OMIA 000162-9913Cardiomyopathy, dilatedBos tauruscattle OPA3 2011
OMIA 000168-9913Cataract, genericBos tauruscattle
OMIA 002111-9913Cataract, recessive, CPAMD8-relatedBos tauruscattle CPAMD8 2017
OMIA 001936-9913Cataract, recessive, NID1-relatedBos tauruscattle NID1 2014
OMIA 000185-9913Chediak-Higashi syndromeBos tauruscattle LYST 1999
OMIA 000187-9913ChondrodysplasiaBos tauruscattle EVC2 2002
OMIA 000194-9913CitrullinaemiaBos tauruscattle ASS1 1989
OMIA 001585-9913Cleft lip and jaw, right-sidedBos tauruscattle
OMIA 000201-9913Coat colour, agoutiBos tauruscattle ASIP 2006
OMIA 000202-9913Coat colour, albinismBos tauruscattle TYR 2004
OMIA 000204-9913Coat colour, albinism, incompleteBos tauruscattle
OMIA 001821-9913Coat colour, albinism, oculocutaneous type IVBos tauruscattle SLC45A2 2017
OMIA 001249-9913Coat colour, brownBos tauruscattle TYRP1 2003
OMIA 001576-9913Coat colour, colour-sidedBos tauruscattle KIT 2011
OMIA 000031-9913Coat colour, diluteBos tauruscattle MLPH 2015
OMIA 001545-9913Coat colour, dilutionBos tauruscattle PMEL 2007
OMIA 001529-9913Coat colour, dominant redBos tauruscattle COPA 2014
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 001320-9913Coat colour, spottedBos tauruscattle
OMIA 001469-9913Coat colour, white beltBos tauruscattle TWIST2 2017
OMIA 001340-9913Complex vertebral malformationBos tauruscattle SLC35A3 2006
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 000246-9913Curly hair, karakul-typeBos tauruscattle KRT27 2014
OMIA 000262-9913Deficiency of uridine monophosphate synthaseBos tauruscattle UMPS 1993
OMIA 001931-9913Depigmentation associated with microphthalmiaBos tauruscattle MITF 2014
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 001659-9913Dwarfism, dominantBos tauruscattle
OMIA 001985-9913Dwarfism, FleckviehBos tauruscattle GON4L 2016
OMIA 001473-9913Dwarfism, growth-hormone deficiencyBos tauruscattle GH1 2009
OMIA 001294-9913Dwarfism, growth-hormone-receptor deficiencyBos tauruscattle
OMIA 000308-9913Dwarfism, proportionateBos tauruscattle
OMIA 001686-9913Dwarfism, proportionate, with inflammatory lesionsBos tauruscattle RNF11 2012
OMIA 000310-9913Dwarfism, snorterBos tauruscattle
OMIA 000311-9913Dwarfism, stumpyBos tauruscattle
OMIA 000317-9913Ears, cropBos tauruscattle HMX1 2013
OMIA 001716-9913Ehlers-Danlos syndrome, Holstein variantBos tauruscattle EPYC 1999
OMIA 000328-9913Ehlers-Danlos syndrome, type VII (Dermatosparaxis)Bos tauruscattle ADAMTS2 1999
OMIA 000340-9913Epidermolysis bullosaBos tauruscattle
OMIA 000341-9913Epidermolysis bullosa, dystrophicBos tauruscattle COL7A1 2012
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 002081-9913Epidermolysis bullosa, simplex, KRT5-relatedBos tauruscattle KRT5 2005
OMIA 000343-9913Epididymal aplasiaBos tauruscattle
OMIA 000344-9913EpilepsyBos tauruscattle

Gene not yet published

OMIA 000348-9913Epitheliogenesis imperfectaBos tauruscattle
OMIA 002090-9913Facial dysplasia syndromeBos tauruscattle FGFR2 2017
OMIA 000363-9913Factor XI deficiencyBos tauruscattle F11 2000
OMIA 000366-9913Fanconi syndromeBos tauruscattle SLC2A2 2016
OMIA 001442-9913Forelimb-girdle muscular anomalyBos tauruscattle GFRA1 2013
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 000426-9913Gonadal hypoplasiaBos tauruscattle KIT 2013
OMIA 001958-9913Growth retardation due to haplotype FH2Bos tauruscattle
OMIA 000437-9913Haemophilia ABos tauruscattle F8 2009
OMIA 000439-9913Hair, longBos tauruscattle
OMIA 000441-9913HairyBos tauruscattle PRL 2014
OMIA 000468-9913Heterochromia irides/iridisBos tauruscattle
OMIA 001965-9913Holstein cholesterol deficiency Bos tauruscattle APOB 2016
OMIA 002053-9913HydrallantoisBos tauruscattle SLC12A1 2016
OMIA 000487-9913HydrocephalusBos tauruscattle

Gene not yet published

OMIA 000493-9913Hydrops foetalisBos tauruscattle
OMIA 000495-9913Hyperbilirubinaemia, unclassifiedBos tauruscattle
OMIA 000527-9913Hypomyelinogenesis, congenitalBos tauruscattle KIF1C 2018
OMIA 000540-9913HypotrichosisBos tauruscattle HEPHL1 2012
OMIA 001544-9913Hypotrichosis with coat-colour dilution (rat-tail syndrome)Bos tauruscattle
OMIA 002114-9913Hypotrichosis, KRT71-relatedBos tauruscattle KRT71 2010
OMIA 000542-9913Hypotrichosis, streakedBos tauruscattle TSR2 2015
OMIA 000547-9913Ichthyosis congenitaBos tauruscattle ABCA12 2008
OMIA 002102-9913Iridal hypopigmentation, bilateralBos tauruscattle
OMIA 001722-9913Lethal multi-organ developmental dysplasiaBos tauruscattle KDM2B 2012
OMIA 000595-9913Leukocyte adhesion deficiency, type IBos tauruscattle ITGB2 1992
OMIA 000601-9913Limber legsBos tauruscattle
OMIA 000603-9913Limbs, curvedBos tauruscattle
OMIA 001407-9913Lipofuscinosis, renalBos tauruscattle
OMIA 001557-9913Ljutikow's lethalBos tauruscattle
OMIA 001902-9913Male subfertilityBos tauruscattle TMEM95 2014
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 001558-9913Micromelia, achondroplasticBos tauruscattle
OMIA 000656-9913Molars, impactedBos tauruscattle
OMIA 000664-9913Mucopolysaccharidosis IBos tauruscattle
OMIA 001342-9913Mucopolysaccharidosis IIIBBos tauruscattle NAGLU 2007
OMIA 000733-9913Multiple ocular defectsBos tauruscattle WFDC1 2009
OMIA 000673-9913Mummified foetusBos tauruscattle
OMIA 000674-9913Muscle contractureBos tauruscattle
OMIA 000683-9913Muscular hypertrophy (double muscling)Bos tauruscattle MSTN 1997
OMIA 000685-9913Myasthenic syndrome, congenital, CHRNE-relatedBos tauruscattle CHRNE 2002
OMIA 000827-9913Myeloencephalopathy, progressive degenerative (Weaver syndrome)Bos tauruscattle PNPLA8 2016
OMIA 000689-9913MyoclonusBos tauruscattle GLRA1 2001
OMIA 001319-9913Myopathy of the diaphragmatic musclesBos tauruscattle HSPA1A 2003
OMIA 002125-9913NeurocristopathyBos tauruscattle CHD7 2017
OMIA 001482-9913Neuronal ceroid lipofuscinosis, 5Bos tauruscattle CLN5 2006
OMIA 000181-9913Neuronal Ceroid Lipofuscinosis, genericBos tauruscattle
OMIA 002101-9913Oculocutaneous hypopigmentationBos tauruscattle

Gene not yet published

2015
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 001230-9913Ovotesticular DSD (Disorder of Sexual Development)Bos tauruscattle SRY 1996
OMIA 001817-9913Perinatal weak calf syndromeBos tauruscattle IARS 2013
OMIA 001736-9913Polled and multisystemic syndromeBos tauruscattle ZEB2 2012
OMIA 000483-9913Polled/HornsBos tauruscattle POLL 2012
OMIA 001175-9913Porphyria, congenital erythropoieticBos 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 001562-9913Pulmonary hypoplasia with anasarcaBos tauruscattle

Gene not yet published

OMIA 000850-9913Rectovaginal constrictionBos tauruscattle
OMIA 001135-9913Renal dysplasiaBos tauruscattle CLDN16 2000
OMIA 002073-9913Resistance/susceptibility to Mannheimia haemolytica leukotoxinBos tauruscattle ITGB2 2016
OMIA 002029-9913Retinitis pigmentosa 1Bos tauruscattle RP1 2016
OMIA 000894-9913ScursBos tauruscattle
OMIA 001593-9913Scurs, type 2Bos tauruscattle TWIST1 2011
OMIA 000911-9913Short spineBos tauruscattle
OMIA 001372-9913Slick hairBos tauruscattle PRLR 2014
OMIA 000927-9913Spastic lethalBos tauruscattle
OMIA 001334-9913Sperm, short tailBos tauruscattle ARMC3 2016
OMIA 001228-9913SpherocytosisBos tauruscattle SLC4A1 1996
OMIA 001247-9913Spinal dysmyelinationBos tauruscattle SPAST 2010
OMIA 000939-9913Spinal muscular atrophyBos tauruscattle KDSR 2007
OMIA 000944-9913Spongiform encephalopathyBos tauruscattle PRNP 2008
OMIA 001991-9913StillbirthBos tauruscattle 2016
OMIA 000963-9913Syndactyly (mule foot)Bos tauruscattle LRP4 2006
OMIA 002150-9913Syndrome des veaux tourneurs (Turning calves syndrome)Bos tauruscattle SLC25A46 2017
OMIA 001452-9913Tail, crookedBos tauruscattle MRC2 2009
OMIA 000973-9913Tail, kinkyBos tauruscattle
OMIA 001510-9913Tail, wryBos tauruscattle
OMIA 000992-9913Testicular hypoplasiaBos tauruscattle
OMIA 001003-9913ThrombopathiaBos tauruscattle RASGRP2 2007
OMIA 001009-9913Tibial hemimeliaBos tauruscattle ALX4 2012
OMIA 002109-9913Tricho-dento-osseous-like syndromeBos tauruscattle DLX3 2017
OMIA 001360-9913Trimethylaminuria (fishy taint)Bos tauruscattle FMO3 2002
OMIA 001951-9913Vertebral and spinal dysplasiaBos tauruscattle T 2015
OMIA 001048-9913Vertical fibre hide defectBos tauruscattle
OMIA 001819-9913Xanthinuria, type IIBos tauruscattle MOCOS 2000
OMIA 001079-9913Yellow fatBos tauruscattle BCO2 2009
OMIA 001935-9913Zinc deficiency-like syndromeBos tauruscattle PLD4 2014