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155 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 001562-9913 | Pulmonary hypoplasia with anasarca | Bos taurus | cattle | ADAMTS3 | 2020 | 2020-02-20 |
| OMIA 001565-9913 | Abortion and stillbirth, MIMT1-related | Bos taurus | cattle | MIMT1 | 2010 | 2013-05-17 |
| OMIA 001951-9913 | Vertebral and spinal dysplasia | Bos taurus | cattle | T | 2015 | 2015-04-16 |
| OMIA 002149-9913 | Abortion due to haplotype HH6 | Bos taurus | cattle | SDE2 | 2018 | 2018-04-20 |
| OMIA 002150-9913 | Syndrome des veaux tourneurs (Turning calves syndrome) | Bos taurus | cattle | SLC25A46 | 2017 | 2018-05-23 |
| OMIA 001106-9913 | Axonopathy | Bos taurus | cattle | MFN2 | 2011 | 2017-07-11 |
| OMIA 000625-9913 | Mannosidosis, alpha | Bos taurus | cattle | MAN2B1 | 1997 | 2013-12-11 |
| OMIA 001334-9913 | Sperm, short tail | Bos taurus | cattle | ARMC3 | 2016 | 2016-03-04 |
| OMIA 000487-9913 | Hydrocephalus | Bos taurus | cattle |
Gene not yet published |
2019-08-21 | |
| OMIA 001319-9913 | Myopathy of the diaphragmatic muscles | Bos taurus | cattle | HSPA1A | 2003 | 2012-09-21 |
| OMIA 001576-9913 | Coat colour, colour-sided | Bos taurus | cattle | KIT | 2011 | 2019-11-18 |
| OMIA 000194-9913 | Citrullinaemia | Bos taurus | cattle | ASS1 | 1989 | 2012-09-19 |
| OMIA 000685-9913 | Myasthenic syndrome, congenital, CHRNE-related | Bos taurus | cattle | CHRNE | 2002 | 2012-09-21 |
| OMIA 000262-9913 | Deficiency of uridine monophosphate synthase | Bos taurus | cattle | UMPS | 1993 | 2015-03-24 |
| OMIA 000328-9913 | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | Bos taurus | cattle | ADAMTS2 | 1999 | 2016-10-28 |
| OMIA 000031-9913 | Coat colour, dilution, MLPH-related | Bos taurus | cattle | MLPH | 2015 | 2020-03-02 |
| OMIA 000209-9913 | Coat colour, dominant white | Bos taurus | cattle | KIT | 2010 | 2011-12-09 |
| OMIA 000424-9913 | Goitre, familial | Bos taurus | cattle | TG | 1987 | 2015-09-28 |
| OMIA 001593-9913 | Scurs, type 2 | Bos taurus | cattle | TWIST1 | 2011 | 2015-10-01 |
| OMIA 001216-9913 | Coat colour, roan | Bos taurus | cattle | KITLG | 1999 | 2012-09-15 |
| OMIA 002167-9913 | Asthenospermia | Bos taurus | cattle | CCDC189 | 2019 | 2019-04-15 |
| OMIA 000001-9913 | Abortion due to haplotype HH1 | Bos taurus | cattle | APAF1 | 2012 | 2016-06-14 |
| OMIA 000317-9913 | Ears, crop | Bos taurus | cattle | HMX1 | 2013 | 2013-11-08 |
| OMIA 001887-9913 | Osteopetrosis with gingival hamartomas | Bos taurus | cattle | CLCN7 | 2014 | 2016-08-16 |
| OMIA 001228-9913 | Spherocytosis | Bos taurus | cattle | SLC4A1 | 1996 | 2013-06-07 |
| OMIA 001230-9913 | Ovotesticular DSD (Disorder of Sexual Development) | Bos taurus | cattle | SRY | 1996 | 2013-02-20 |
| OMIA 000527-9913 | Hypomyelinogenesis, congenital | Bos taurus | cattle | KIF1C | 2018 | 2018-08-08 |
| OMIA 001901-9913 | Abortion, RNASEH2B-related | Bos taurus | cattle | RNASEH2B | 2014 | 2020-03-23 |
| OMIA 001902-9913 | Male subfertility | Bos taurus | cattle | TMEM95 | 2014 | 2017-08-04 |
| OMIA 000939-9913 | Spinal muscular atrophy | Bos taurus | cattle | KDSR | 2007 | 2016-08-15 |
| OMIA 000733-9913 | Multiple ocular defects | Bos taurus | cattle | WFDC1 | 2009 | 2011-12-09 |
| OMIA 000366-9913 | Fanconi syndrome | Bos taurus | cattle | SLC2A2 | 2016 | 2018-03-23 |
| OMIA 000344-9913 | Epilepsy | Bos taurus | cattle |
Gene not yet published |
2019-08-21 | |
| OMIA 000944-9913 | Spongiform encephalopathy | Bos taurus | cattle | PRNP | 2008 | 2018-01-24 |
| OMIA 002201-9913 | Abortion due to haplotype NH7 | Bos taurus | cattle | CAD | 2019 | 2019-06-04 |
| OMIA 001340-9913 | Complex vertebral malformation | Bos taurus | cattle | SLC35A3 | 2006 | 2015-03-24 |
| OMIA 002035-9913 | Abortion (embryonic lethality), OBFC1-related | Bos taurus | cattle | OBFC1 | 2016 | 2016-09-01 |
| OMIA 001737-9913 | Coat colour, white spotting, KIT-related | Bos taurus | cattle | KIT | 2019 | 2020-02-25 |
| OMIA 001926-9913 | Achondrogenesis, type II | Bos taurus | cattle | COL2A1 | 2014 | 2019-02-11 |
| OMIA 000593-9913 | Acrodermatitis enteropathica | Bos taurus | cattle | SLC39A4 | 2002 | 2012-12-05 |
| OMIA 000363-9913 | Factor XI deficiency | Bos taurus | cattle | F11 | 2000 | 2018-01-28 |
| OMIA 000595-9913 | Leukocyte adhesion deficiency, type I | Bos taurus | cattle | ITGB2 | 1992 | 2015-06-18 |
| OMIA 000059-9913 | Arachnomelia, BTA5 | Bos taurus | cattle | SUOX | 2010 | 2013-12-30 |
| OMIA 001931-9913 | Depigmentation associated with microphthalmia | Bos taurus | cattle | MITF | 2014 | 2014-09-22 |
| OMIA 001360-9913 | Trimethylaminuria (fishy taint) | Bos taurus | cattle | FMO3 | 2002 | 2013-11-30 |
| OMIA 000836-9913 | Protoporphyria | Bos taurus | cattle | FECH | 1998 | 2016-08-28 |
| OMIA 001342-9913 | Mucopolysaccharidosis IIIB | Bos taurus | cattle | NAGLU | 2007 | 2013-02-20 |
| OMIA 001934-9913 | Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) | Bos taurus | cattle | UBE3B | 2014 | 2019-04-11 |
| OMIA 001935-9913 | Zinc deficiency-like syndrome | Bos taurus | cattle | PLD4 | 2014 | 2014-10-29 |
| OMIA 001936-9913 | Cataract, recessive, NID1-related | Bos taurus | cattle | NID1 | 2014 | 2014-10-29 |
| OMIA 001939-9913 | Abortion due to haplotype BH2 | Bos taurus | cattle | TUBD1 | 2016 | 2020-03-23 |
| OMIA 001941-9913 | Abortion due to haplotype HH5 | Bos taurus | cattle | TFB1M | 2016 | 2016-05-03 |
| OMIA 001442-9913 | Forelimb-girdle muscular anomaly | Bos taurus | cattle | GFRA1 | 2013 | 2013-01-04 |
| OMIA 001678-9913 | Epidermolysis bullosa, junctionalis, LAMC2-related | Bos taurus | cattle | LAMC2 | 2015 | 2015-04-22 |
| OMIA 001948-9913 | Epidermolysis bullosa, junctionalis, ITGB4-related | Bos taurus | cattle | ITGB4 | 2015 | 2015-05-17 |
| OMIA 001372-9913 | Slick hair | Bos taurus | cattle | PRLR | 2014 | 2018-03-23 |
| OMIA 001247-9913 | Spinal dysmyelination | Bos taurus | cattle | SPAST | 2010 | 2015-03-24 |
| OMIA 002090-9913 | Facial dysplasia syndrome | Bos taurus | cattle | FGFR2 | 2017 | 2017-08-09 |
| OMIA 002230-9913 | Hypotrichosis, HEPHL1-related | Bos taurus | cattle | HEPHL1 | 2012 | 2020-01-28 |
| OMIA 000626-9913 | Mannosidosis, beta | Bos taurus | cattle | MANBA | 1999 | 2012-09-15 |
| OMIA 001953-9913 | Arthrogryposis, lethal syndrome | Bos taurus | cattle | PIGH | 2015 | 2015-04-19 |
| OMIA 000627-9913 | Maple syrup urine disease | Bos taurus | cattle | BCKDHA | 1990 | 2012-09-19 |
| OMIA 000628-9913 | Marfan syndrome | Bos taurus | cattle | FBN1 | 2005 | 2016-08-15 |
| OMIA 001249-9913 | Coat colour, brown | Bos taurus | cattle | TYRP1 | 2003 | 2012-09-21 |
| OMIA 001960-9913 | Abortion due to haplotype FH4 | Bos taurus | cattle | SUGT1 | 2015 | 2015-04-30 |
| OMIA 002238-9913 | Ichthyosis, ABCA12-related | Bos taurus | cattle | ABCA12 | 2008 | 2020-01-31 |
| OMIA 001965-9913 | Holstein cholesterol deficiency | Bos taurus | cattle | APOB | 2016 | 2019-09-18 |
| OMIA 001677-9913 | Epidermolysis bullosa, junctionalis, LAMA3-related | Bos taurus | cattle | LAMA3 | 2015 | 2015-09-28 |
| OMIA 000441-9913 | Hairy | Bos taurus | cattle | PRL | 2014 | 2015-11-12 |
| OMIA 001009-9913 | Hemimelia, tibial | Bos taurus | cattle | ALX4 | 2012 | 2015-06-21 |
| OMIA 000419-9913 | Glycogen storage disease II | Bos taurus | cattle | GAA | 2000 | 2019-09-20 |
| OMIA 001978-9913 | Arthrogryposis, distal, type 1B | Bos taurus | cattle | MYBPC1 | 2015 | 2015-12-31 |
| OMIA 000426-9913 | Gonadal hypoplasia | Bos taurus | cattle | KIT | 2013 | 2013-10-13 |
| OMIA 001703-9913 | Chondrodysplasia, FGFR3-related | Bos taurus | cattle | FGFR3 | 2020 | 2020-04-04 |
| OMIA 001985-9913 | Dwarfism, Fleckvieh | Bos taurus | cattle | GON4L | 2016 | 2016-04-11 |
| OMIA 001680-9913 | Dominant white with bilateral deafness | Bos taurus | cattle | MITF | 2011 | 2017-09-19 |
| OMIA 001451-9913 | Congenital muscular dystonia 2 | Bos taurus | cattle | LOC528050 | 2008 | 2017-12-12 |
| OMIA 000683-9913 | Muscular hypertrophy (double muscling) | Bos taurus | cattle | MSTN | 1997 | 2019-09-18 |
| OMIA 001686-9913 | Dwarfism, proportionate, with inflammatory lesions | Bos taurus | cattle | RNF11 | 2012 | 2017-07-11 |
| OMIA 000689-9913 | Myoclonus | Bos taurus | cattle | GLRA1 | 2001 | 2016-08-16 |
| OMIA 001437-9913 | Beta-lactoglobulin, aberrant low expression | Bos taurus | cattle | PAEP | 2006 | 2016-11-11 |
| OMIA 000341-9913 | Epidermolysis bullosa, dystrophic | Bos taurus | cattle | COL7A1 | 2012 | 2016-12-06 |
| OMIA 001697-9913 | Abortion due to haplotype JH1 | Bos taurus | cattle | CWC15 | 2012 | 2017-08-08 |
| OMIA 001450-9913 | Congenital muscular dystonia 1 | Bos taurus | cattle | ATP2A1 | 2008 | 2013-08-16 |
| OMIA 002022-9913 | Arthrogryposis multiplex congenita, CHRNB1-related | Bos taurus | cattle | CHRNB1 | 2016 | 2016-08-04 |
| OMIA 001452-9913 | Tail, crooked | Bos taurus | cattle | MRC2 | 2009 | 2016-08-15 |
| OMIA 001271-9913 | Dwarfism, ACAN-related | Bos taurus | cattle | ACAN | 2007 | 2019-03-28 |
| OMIA 000827-9913 | Myeloencephalopathy, progressive degenerative (Weaver syndrome) | Bos taurus | cattle | PNPLA8 | 2016 | 2016-03-22 |
| OMIA 001716-9913 | Ehlers-Danlos syndrome, Holstein variant | Bos taurus | cattle | EPYC | 1999 | 2018-05-29 |
| OMIA 002029-9913 | Retinitis pigmentosa 1 | Bos taurus | cattle | RP1 | 2016 | 2016-08-11 |
| OMIA 000151-9913 | Brachyspina | Bos taurus | cattle | FANCI | 2012 | 2015-03-24 |
| OMIA 000483-9913 | Polled/Horns | Bos taurus | cattle | POLLED | 2012 | 2020-03-06 |
| OMIA 000963-9913 | Syndactyly (mule foot) | Bos taurus | cattle | LRP4 | 2006 | 2016-08-15 |
| OMIA 002033-9913 | A2 milk | Bos taurus | cattle | CSN2 | 2016-08-27 | |
| OMIA 001464-9913 | Pseudomyotonia, congenital | Bos taurus | cattle | ATP2A1 | 2008 | 2017-07-31 |
| OMIA 000161-9913 | Cardiomyopathy and woolly haircoat syndrome | Bos taurus | cattle | PPP1R13L | 2009 | 2011-12-09 |
| OMIA 002036-9913 | Abortion (embryonic lethality), TTF1-related | Bos taurus | cattle | TTF1 | 2016 | 2016-09-01 |
| OMIA 000162-9913 | Cardiomyopathy, dilated | Bos taurus | cattle | OPA3 | 2011 | 2016-08-16 |
| OMIA 002038-9913 | Abortion (embryonic lethality), RNF20-related | Bos taurus | cattle | RNF20 | 2016 | 2016-09-01 |
| OMIA 002039-9913 | Abortion (embryonic lethality), MYH6-related | Bos taurus | cattle | MYH6 | 2016 | 2016-09-01 |
| OMIA 002040-9913 | Abortion (embryonic lethality), SNAPC4-related | Bos taurus | cattle | SNAPC4 | 2016 | 2016-09-01 |
| OMIA 002041-9913 | Abortion (embryonic lethality), RPIA-related | Bos taurus | cattle | RPIA | 2016 | 2016-09-01 |
| OMIA 002042-9913 | Abortion (embryonic lethality), EXOSC4-related | Bos taurus | cattle | EXOSC4 | 2016 | 2016-09-01 |
| OMIA 002043-9913 | Abortion (embryonic lethality), MED22-related | Bos taurus | cattle | MED22 | 2016 | 2016-09-01 |
| OMIA 000437-9913 | Haemophilia A | Bos taurus | cattle | F8 | 2009 | 2019-03-02 |
| OMIA 001473-9913 | Dwarfism, growth-hormone deficiency | Bos taurus | cattle | GH1 | 2009 | 2016-08-15 |
| OMIA 001722-9913 | Lethal multi-organ developmental dysplasia | Bos taurus | cattle | KDM2B | 2012 | 2014-05-07 |
| OMIA 002053-9913 | Hydrallantois | Bos taurus | cattle | SLC12A1 | 2016 | 2016-10-17 |
| OMIA 001826-9913 | Abortion due to haplotype HH4 | Bos taurus | cattle | GART | 2013 | 2015-03-24 |
| OMIA 001139-9913 | Glycogen storage disease V | Bos taurus | cattle | PYGM | 1996 | 2015-09-28 |
| OMIA 001821-9913 | Coat colour, albinism, oculocutaneous type IV | Bos taurus | cattle | SLC45A2 | 2017 | 2017-10-11 |
| OMIA 000755-9913 | Osteopetrosis | Bos taurus | cattle | SLC4A2 | 2010 | 2019-08-21 |
| OMIA 000185-9913 | Chediak-Higashi syndrome | Bos taurus | cattle | LYST | 1999 | 2012-09-15 |
| OMIA 001485-9913 | Dwarfism, Angus | Bos taurus | cattle | PRKG2 | 2009 | 2011-12-09 |
| OMIA 000187-9913 | Chondrodysplasia | Bos taurus | cattle | EVC2 | 2002 | 2018-01-25 |
| OMIA 002073-9913 | Resistance/susceptibility to Mannheimia haemolytica leukotoxin | Bos taurus | cattle | ITGB2 | 2016 | 2019-09-18 |
| OMIA 001544-9913 | Hypotrichosis with coat-colour dilution (rat-tail syndrome) | Bos taurus | cattle | sMC1R, PMEL | 2016 | 2020-03-02 |
| OMIA 002081-9913 | Epidermolysis bullosa, simplex, KRT5-related | Bos taurus | cattle | KRT5 | 2005 | 2016-11-29 |
| OMIA 001079-9913 | Yellow fat | Bos taurus | cattle | BCO2 | 2009 | 2011-12-09 |
| OMIA 002083-9913 | Abortion (embryonic lethality), ANXA10-related | Bos taurus | cattle | ANXA10 | 2016 | 2016-12-01 |
| OMIA 001545-9913 | Coat colour, dilution, PMEL-related | Bos taurus | cattle | PMEL | 2007 | 2017-08-03 |
| OMIA 000542-9913 | Hypotrichosis, streaked | Bos taurus | cattle | TSR2 | 2015 | 2016-08-15 |
| OMIA 000543-9913 | Anhidrotic ectodermal dysplasia, EDA-related | Bos taurus | cattle | EDA | 2001 | 2019-09-23 |
| OMIA 000214-9913 | Coat colour, white spotting | Bos taurus | cattle | sMITF, PAX3 | 2012 | 2020-02-19 |
| OMIA 001502-9913 | Caprine-like Generalized Hypoplasia Syndrome | Bos taurus | cattle | CEP250 | 2015 | 2018-01-25 |
| OMIA 000202-9913 | Coat colour, albinism | Bos taurus | cattle | TYR | 2004 | 2012-10-17 |
| OMIA 002037-9913 | Abortion (embryonic lethality), RABGGTB-related | Bos taurus | cattle | RABGGTB | 2016 | 2016-09-01 |
| OMIA 001482-9913 | Neuronal ceroid lipofuscinosis, 5 | Bos taurus | cattle | CLN5 | 2006 | 2015-10-01 |
| OMIA 001511-9913 | Contractural arachnodactyly (Fawn calf syndrome) | Bos taurus | cattle | ADAMTSL3 | 2014 | 2019-08-21 |
| OMIA 002223-9913 | Interdigital hyperplasia | Bos taurus | cattle | ROR2 | 2019 | 2020-01-19 |
| OMIA 002101-9913 | Oculocutaneous hypopigmentation | Bos taurus | cattle |
Gene not yet published |
2015 | 2017-04-13 |
| OMIA 002103-9913 | Developmental duplications | Bos taurus | cattle | NHLRC2 | 2014 | 2017-06-13 |
| OMIA 001529-9913 | Coat colour, dominant red | Bos taurus | cattle | COPA | 2014 | 2017-09-19 |
| OMIA 002109-9913 | Tricho-dento-osseous-like syndrome | Bos taurus | cattle | DLX3 | 2017 | 2017-07-05 |
| OMIA 002111-9913 | Cataract, recessive, CPAMD8-related | Bos taurus | cattle | CPAMD8 | 2017 | 2020-01-28 |
| OMIA 001736-9913 | Polled and multisystemic syndrome | Bos taurus | cattle | ZEB2 | 2012 | 2012-11-23 |
| OMIA 002114-9913 | Hypotrichosis, KRT71-related | Bos taurus | cattle | KRT71 | 2010 | 2017-07-21 |
| OMIA 001469-9913 | Coat colour, white belt | Bos taurus | cattle | TWIST2 | 2017 | 2020-02-19 |
| OMIA 001817-9913 | Perinatal weak calf syndrome | Bos taurus | cattle | IARS | 2013 | 2019-09-21 |
| OMIA 001819-9913 | Xanthinuria, type II | Bos taurus | cattle | MOCOS | 2000 | 2016-12-06 |
| OMIA 001135-9913 | Renal dysplasia | Bos taurus | cattle | CLDN16 | 2000 | 2012-09-17 |
| OMIA 002125-9913 | Neurocristopathy | Bos taurus | cattle | CHD7 | 2017 | 2017-09-19 |
| OMIA 002127-9913 | Osteogenesis imperfecta, type II, COL1A1-related | Bos taurus | cattle | COL1A1 | 2017 | 2019-09-21 |
| OMIA 002128-9913 | Anhidrotic ectodermal dysplasia, EDAR-related | Bos taurus | cattle | EDAR | 2017 | 2017-09-19 |
| OMIA 001824-9913 | Abortion due to haplotype HH3 | Bos taurus | cattle | SMC2 | 2013 | 2015-03-24 |
| OMIA 000246-9913 | Curly coat, karakul-type | Bos taurus | cattle | KRT27 | 2014 | 2019-03-02 |
| OMIA 001541-9913 | Arachnomelia, BTA23 | Bos taurus | cattle | MOCS1 | 2011 | 2013-12-30 |
| OMIA 001827-9913 | Abortion due to haplotype MH1 | Bos taurus | cattle | PFAS | 2013 | 2020-03-14 |
| OMIA 001828-9913 | Abortion due to haplotype MH2 | Bos taurus | cattle | SLC37A2 | 2013 | 2019-11-19 |
| OMIA 001830-9913 | Abortion due to haplotype HH7 | Bos taurus | cattle | CENPU | 2020 | 2020-03-14 |
| OMIA 002134-9913 | Abortion due to haplotype AH2 | Bos taurus | cattle | RPAP2 | 2017 | 2019-04-11 |
| OMIA 002135-9913 | Arthrogryposis multiplex congenita, AGRN-related | Bos taurus | cattle | AGRN | 2011 | 2019-08-21 |
| OMIA 001003-9913 | Thrombopathia | Bos taurus | cattle | RASGRP2 | 2007 | 2016-05-19 |
| OMIA 001199-9913 | Coat colour, extension | Bos taurus | cattle | MC1R | 1995 | 2017-12-11 |
| OMIA 000201-9913 | Coat colour, agouti | Bos taurus | cattle | ASIP | 2006 | 2011-12-09 |