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152 phene records found

[show instead gene records]

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 001562-9913Pulmonary hypoplasia with anasarcaBos tauruscattle

Gene not yet published

2019-08-21
OMIA 001565-9913Abortion and stillbirth, MIMT1-relatedBos tauruscattle MIMT1 2010 2013-05-17
OMIA 002149-9913Abortion due to haplotype HH6Bos tauruscattle SDE2 2018 2018-04-20
OMIA 002150-9913Syndrome des veaux tourneurs (Turning calves syndrome)Bos tauruscattle SLC25A46 2017 2018-05-23
OMIA 001106-9913AxonopathyBos tauruscattle MFN2 2011 2017-07-11
OMIA 000625-9913Mannosidosis, alphaBos tauruscattle MAN2B1 1997 2013-12-11
OMIA 001334-9913Sperm, short tailBos tauruscattle ARMC3 2016 2016-03-04
OMIA 000487-9913HydrocephalusBos tauruscattle

Gene not yet published

2019-08-21
OMIA 001319-9913Myopathy of the diaphragmatic musclesBos tauruscattle HSPA1A 2003 2012-09-21
OMIA 001576-9913Coat colour, colour-sidedBos tauruscattle KIT 2011 2019-11-18
OMIA 000194-9913CitrullinaemiaBos tauruscattle ASS1 1989 2012-09-19
OMIA 000685-9913Myasthenic syndrome, congenital, CHRNE-relatedBos tauruscattle CHRNE 2002 2012-09-21
OMIA 000262-9913Deficiency of uridine monophosphate synthaseBos tauruscattle UMPS 1993 2015-03-24
OMIA 000328-9913Ehlers-Danlos syndrome, type VII (Dermatosparaxis)Bos tauruscattle ADAMTS2 1999 2016-10-28
OMIA 000031-9913Coat colour, diluteBos tauruscattle MLPH 2015 2018-09-13
OMIA 000209-9913Coat colour, dominant whiteBos tauruscattle KIT 2010 2011-12-09
OMIA 000424-9913Goitre, familialBos tauruscattle TG 1987 2015-09-28
OMIA 001593-9913Scurs, type 2Bos tauruscattle TWIST1 2011 2015-10-01
OMIA 001216-9913Coat colour, roanBos tauruscattle KITLG 1999 2012-09-15
OMIA 002167-9913AsthenospermiaBos tauruscattle CCDC189 2019 2019-04-15
OMIA 002193-9913Ichthyosis, fetalisBos tauruscattle ABCA12 2008 2019-10-03
OMIA 000001-9913Abortion due to haplotype HH1Bos tauruscattle APAF1 2012 2016-06-14
OMIA 000317-9913Ears, cropBos tauruscattle HMX1 2013 2013-11-08
OMIA 001887-9913Osteopetrosis with gingival hamartomasBos tauruscattle CLCN7 2014 2016-08-16
OMIA 001228-9913SpherocytosisBos tauruscattle SLC4A1 1996 2013-06-07
OMIA 001230-9913Ovotesticular DSD (Disorder of Sexual Development)Bos tauruscattle SRY 1996 2013-02-20
OMIA 000527-9913Hypomyelinogenesis, congenitalBos tauruscattle KIF1C 2018 2018-08-08
OMIA 001901-9913Abortion, RNASEH2B-relatedBos tauruscattle RNASEH2B 2014 2014-02-12
OMIA 001902-9913Male subfertilityBos tauruscattle TMEM95 2014 2017-08-04
OMIA 000939-9913Spinal muscular atrophyBos tauruscattle KDSR 2007 2016-08-15
OMIA 000733-9913Multiple ocular defectsBos tauruscattle WFDC1 2009 2011-12-09
OMIA 000366-9913Fanconi syndromeBos tauruscattle SLC2A2 2016 2018-03-23
OMIA 000344-9913EpilepsyBos tauruscattle

Gene not yet published

2019-08-21
OMIA 000944-9913Spongiform encephalopathyBos tauruscattle PRNP 2008 2018-01-24
OMIA 002201-9913Abortion due to haplotype NH7Bos tauruscattle CAD 2019 2019-06-04
OMIA 001340-9913Complex vertebral malformationBos tauruscattle SLC35A3 2006 2015-03-24
OMIA 002035-9913Abortion (embryonic lethality), OBFC1-relatedBos tauruscattle OBFC1 2016 2016-09-01
OMIA 001737-9913Coat colour, white spotting, KIT-relatedBos tauruscattle KIT 2019 2019-09-21
OMIA 001926-9913Achondrogenesis, type IIBos tauruscattle COL2A1 2014 2019-02-11
OMIA 000593-9913Acrodermatitis enteropathicaBos tauruscattle SLC39A4 2002 2012-12-05
OMIA 000363-9913Factor XI deficiencyBos tauruscattle F11 2000 2018-01-28
OMIA 000595-9913Leukocyte adhesion deficiency, type IBos tauruscattle ITGB2 1992 2015-06-18
OMIA 000059-9913Arachnomelia, BTA5Bos tauruscattle SUOX 2010 2013-12-30
OMIA 001931-9913Depigmentation associated with microphthalmiaBos tauruscattle MITF 2014 2014-09-22
OMIA 001360-9913Trimethylaminuria (fishy taint)Bos tauruscattle FMO3 2002 2013-11-30
OMIA 000836-9913ProtoporphyriaBos tauruscattle FECH 1998 2016-08-28
OMIA 001342-9913Mucopolysaccharidosis IIIBBos tauruscattle NAGLU 2007 2013-02-20
OMIA 001934-9913Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1)Bos tauruscattle UBE3B 2014 2019-04-11
OMIA 001935-9913Zinc deficiency-like syndromeBos tauruscattle PLD4 2014 2014-10-29
OMIA 001936-9913Cataract, recessive, NID1-relatedBos tauruscattle NID1 2014 2014-10-29
OMIA 001939-9913Abortion due to haplotype BH2Bos tauruscattle TUBD1 2016 2016-06-02
OMIA 001941-9913Abortion due to haplotype HH5Bos tauruscattle TFB1M 2016 2016-05-03
OMIA 001442-9913Forelimb-girdle muscular anomalyBos tauruscattle GFRA1 2013 2013-01-04
OMIA 001678-9913Epidermolysis bullosa, junctionalis, LAMC2-relatedBos tauruscattle LAMC2 2015 2015-04-22
OMIA 001948-9913Epidermolysis bullosa, junctionalis, ITGB4-relatedBos tauruscattle ITGB4 2015 2015-05-17
OMIA 001372-9913Slick hairBos tauruscattle PRLR 2014 2018-03-23
OMIA 001247-9913Spinal dysmyelinationBos tauruscattle SPAST 2010 2015-03-24
OMIA 001951-9913Vertebral and spinal dysplasiaBos tauruscattle T 2015 2015-04-16
OMIA 000626-9913Mannosidosis, betaBos tauruscattle MANBA 1999 2012-09-15
OMIA 001953-9913Arthrogryposis, lethal syndromeBos tauruscattle PIGH 2015 2015-04-19
OMIA 000627-9913Maple syrup urine diseaseBos tauruscattle BCKDHA 1990 2012-09-19
OMIA 000628-9913Marfan syndromeBos tauruscattle FBN1 2005 2016-08-15
OMIA 001249-9913Coat colour, brownBos tauruscattle TYRP1 2003 2012-09-21
OMIA 001960-9913Abortion due to haplotype FH4Bos tauruscattle SUGT1 2015 2015-04-30
OMIA 001965-9913Holstein cholesterol deficiency Bos tauruscattle APOB 2016 2019-09-18
OMIA 001677-9913Epidermolysis bullosa, junctionalis, LAMA3-relatedBos tauruscattle LAMA3 2015 2015-09-28
OMIA 000441-9913HairyBos tauruscattle PRL 2014 2015-11-12
OMIA 001009-9913Tibial hemimeliaBos tauruscattle ALX4 2012 2015-06-21
OMIA 000419-9913Glycogen storage disease IIBos tauruscattle GAA 2000 2019-09-20
OMIA 001978-9913Arthrogryposis, distal, type 1BBos tauruscattle MYBPC1 2015 2015-12-31
OMIA 000426-9913Gonadal hypoplasiaBos tauruscattle KIT 2013 2013-10-13
OMIA 001985-9913Dwarfism, FleckviehBos tauruscattle GON4L 2016 2016-04-11
OMIA 001680-9913Dominant white with bilateral deafnessBos tauruscattle MITF 2011 2017-09-19
OMIA 001451-9913Congenital muscular dystonia 2Bos tauruscattle LOC528050 2008 2017-12-12
OMIA 000683-9913Muscular hypertrophy (double muscling)Bos tauruscattle MSTN 1997 2019-09-18
OMIA 001686-9913Dwarfism, proportionate, with inflammatory lesionsBos tauruscattle RNF11 2012 2017-07-11
OMIA 000689-9913MyoclonusBos tauruscattle GLRA1 2001 2016-08-16
OMIA 001437-9913Beta-lactoglobulin, aberrant low expressionBos tauruscattle PAEP 2006 2016-11-11
OMIA 000341-9913Epidermolysis bullosa, dystrophicBos tauruscattle COL7A1 2012 2016-12-06
OMIA 001697-9913Abortion due to haplotype JH1Bos tauruscattle CWC15 2012 2017-08-08
OMIA 001450-9913Congenital muscular dystonia 1Bos tauruscattle ATP2A1 2008 2013-08-16
OMIA 002022-9913Arthrogryposis multiplex congenita, CHRNB1-relatedBos tauruscattle CHRNB1 2016 2016-08-04
OMIA 001452-9913Tail, crookedBos tauruscattle MRC2 2009 2016-08-15
OMIA 001271-9913Dwarfism, ACAN-relatedBos tauruscattle ACAN 2007 2019-03-28
OMIA 000827-9913Myeloencephalopathy, progressive degenerative (Weaver syndrome)Bos tauruscattle PNPLA8 2016 2016-03-22
OMIA 001716-9913Ehlers-Danlos syndrome, Holstein variantBos tauruscattle EPYC 1999 2018-05-29
OMIA 002029-9913Retinitis pigmentosa 1Bos tauruscattle RP1 2016 2016-08-11
OMIA 000151-9913BrachyspinaBos tauruscattle FANCI 2012 2015-03-24
OMIA 000483-9913Polled/HornsBos tauruscattle POLLED 2012 2019-09-20
OMIA 000963-9913Syndactyly (mule foot)Bos tauruscattle LRP4 2006 2016-08-15
OMIA 002033-9913A2 milkBos tauruscattle CSN2 2016-08-27
OMIA 001464-9913Pseudomyotonia, congenitalBos tauruscattle ATP2A1 2008 2017-07-31
OMIA 000161-9913Cardiomyopathy and woolly haircoat syndromeBos tauruscattle PPP1R13L 2009 2011-12-09
OMIA 002036-9913Abortion (embryonic lethality), TTF1-relatedBos tauruscattle TTF1 2016 2016-09-01
OMIA 000162-9913Cardiomyopathy, dilatedBos tauruscattle OPA3 2011 2016-08-16
OMIA 002038-9913Abortion (embryonic lethality), RNF20-relatedBos tauruscattle RNF20 2016 2016-09-01
OMIA 002039-9913Abortion (embryonic lethality), MYH6-relatedBos tauruscattle MYH6 2016 2016-09-01
OMIA 002040-9913Abortion (embryonic lethality), SNAPC4-relatedBos tauruscattle SNAPC4 2016 2016-09-01
OMIA 002041-9913Abortion (embryonic lethality), RPIA-relatedBos tauruscattle RPIA 2016 2016-09-01
OMIA 002042-9913Abortion (embryonic lethality), EXOSC4-relatedBos tauruscattle EXOSC4 2016 2016-09-01
OMIA 002043-9913Abortion (embryonic lethality), MED22-relatedBos tauruscattle MED22 2016 2016-09-01
OMIA 000437-9913Haemophilia ABos tauruscattle F8 2009 2019-03-02
OMIA 001473-9913Dwarfism, growth-hormone deficiencyBos tauruscattle GH1 2009 2016-08-15
OMIA 001722-9913Lethal multi-organ developmental dysplasiaBos tauruscattle KDM2B 2012 2014-05-07
OMIA 002053-9913HydrallantoisBos tauruscattle SLC12A1 2016 2016-10-17
OMIA 001826-9913Abortion due to haplotype HH4Bos tauruscattle GART 2013 2015-03-24
OMIA 001139-9913Glycogen storage disease VBos tauruscattle PYGM 1996 2015-09-28
OMIA 001821-9913Coat colour, albinism, oculocutaneous type IVBos tauruscattle SLC45A2 2017 2017-10-11
OMIA 000755-9913OsteopetrosisBos tauruscattle SLC4A2 2010 2019-08-21
OMIA 000185-9913Chediak-Higashi syndromeBos tauruscattle LYST 1999 2012-09-15
OMIA 001485-9913Dwarfism, AngusBos tauruscattle PRKG2 2009 2011-12-09
OMIA 000187-9913ChondrodysplasiaBos tauruscattle EVC2 2002 2018-01-25
OMIA 002073-9913Resistance/susceptibility to Mannheimia haemolytica leukotoxinBos tauruscattle ITGB2 2016 2019-09-18
OMIA 000540-9913HypotrichosisBos tauruscattle HEPHL1 2012 2019-08-21
OMIA 002081-9913Epidermolysis bullosa, simplex, KRT5-relatedBos tauruscattle KRT5 2005 2016-11-29
OMIA 001079-9913Yellow fatBos tauruscattle BCO2 2009 2011-12-09
OMIA 002083-9913Abortion (embryonic lethality), ANXA10-relatedBos tauruscattle ANXA10 2016 2016-12-01
OMIA 001545-9913Coat colour, dilutionBos tauruscattle PMEL 2007 2017-08-03
OMIA 000542-9913Hypotrichosis, streakedBos tauruscattle TSR2 2015 2016-08-15
OMIA 000543-9913Anhidrotic ectodermal dysplasia, EDA-relatedBos tauruscattle EDA 2001 2019-09-23
OMIA 000214-9913Coat colour, white spottingBos tauruscattle MITF 2012 2019-11-18
OMIA 001502-9913Caprine-like Generalized Hypoplasia SyndromeBos tauruscattle CEP250 2015 2018-01-25
OMIA 002090-9913Facial dysplasia syndromeBos tauruscattle FGFR2 2017 2017-08-09
OMIA 002037-9913Abortion (embryonic lethality), RABGGTB-relatedBos tauruscattle RABGGTB 2016 2016-09-01
OMIA 001482-9913Neuronal ceroid lipofuscinosis, 5Bos tauruscattle CLN5 2006 2015-10-01
OMIA 001511-9913Contractural arachnodactyly (Fawn calf syndrome)Bos tauruscattle ADAMTSL3 2014 2019-08-21
OMIA 002101-9913Oculocutaneous hypopigmentationBos tauruscattle

Gene not yet published

2015 2017-04-13
OMIA 002103-9913Developmental duplicationsBos tauruscattle NHLRC2 2014 2017-06-13
OMIA 001529-9913Coat colour, dominant redBos tauruscattle COPA 2014 2017-09-19
OMIA 002109-9913Tricho-dento-osseous-like syndromeBos tauruscattle DLX3 2017 2017-07-05
OMIA 002111-9913Cataract, recessive, CPAMD8-relatedBos tauruscattle CPAMD8 2017 2017-07-07
OMIA 001736-9913Polled and multisystemic syndromeBos tauruscattle ZEB2 2012 2012-11-23
OMIA 002114-9913Hypotrichosis, KRT71-relatedBos tauruscattle KRT71 2010 2017-07-21
OMIA 001469-9913Coat colour, white beltBos tauruscattle TWIST2 2017 2017-07-04
OMIA 000202-9913Coat colour, albinismBos tauruscattle TYR 2004 2012-10-17
OMIA 001817-9913Perinatal weak calf syndromeBos tauruscattle IARS 2013 2019-09-21
OMIA 001819-9913Xanthinuria, type IIBos tauruscattle MOCOS 2000 2016-12-06
OMIA 001135-9913Renal dysplasiaBos tauruscattle CLDN16 2000 2012-09-17
OMIA 002125-9913NeurocristopathyBos tauruscattle CHD7 2017 2017-09-19
OMIA 002127-9913Osteogenesis imperfecta, type II, COL1A1-relatedBos tauruscattle COL1A1 2017 2019-09-21
OMIA 002128-9913Anhidrotic ectodermal dysplasia, EDAR-relatedBos tauruscattle EDAR 2017 2017-09-19
OMIA 001824-9913Abortion due to haplotype HH3Bos tauruscattle SMC2 2013 2015-03-24
OMIA 000246-9913Curly coat, karakul-typeBos tauruscattle KRT27 2014 2019-03-02
OMIA 001541-9913Arachnomelia, BTA23Bos tauruscattle MOCS1 2011 2013-12-30
OMIA 001827-9913Abortion due to haplotype MH1Bos tauruscattle PFAS 2013 2019-11-19
OMIA 001828-9913Abortion due to haplotype MH2Bos tauruscattle SLC37A2 2013 2019-11-19
OMIA 001830-9913Abortion due to haplotype HH7Bos tauruscattle CENPU 2019 2019-11-19
OMIA 002134-9913 Abortion due to haplotype AH2Bos tauruscattle RPAP2 2017 2019-04-11
OMIA 002135-9913Arthrogryposis multiplex congenita, AGRN-relatedBos tauruscattle AGRN 2011 2019-08-21
OMIA 001003-9913ThrombopathiaBos tauruscattle RASGRP2 2007 2016-05-19
OMIA 001199-9913Coat colour, extensionBos tauruscattle MC1R 1995 2017-12-11
OMIA 000201-9913Coat colour, agoutiBos tauruscattle ASIP 2006 2011-12-09