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286 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 002033-9913 | A2 milk | Bos taurus | cattle | CSN2 | 2021-08-22 | |
OMIA 002083-9913 | Abortion (embryonic lethality), ANXA10-related | Bos taurus | cattle | ANXA10 | 2016 | 2016-12-01 |
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 002039-9913 | Abortion (embryonic lethality), MYH6-related | Bos taurus | cattle | MYH6 | 2016 | 2016-09-01 |
OMIA 002035-9913 | Abortion (embryonic lethality), OBFC1-related | Bos taurus | cattle | OBFC1 | 2016 | 2016-09-01 |
OMIA 002037-9913 | Abortion (embryonic lethality), RABGGTB-related | Bos taurus | cattle | RABGGTB | 2016 | 2016-09-01 |
OMIA 002038-9913 | Abortion (embryonic lethality), RNF20-related | Bos taurus | cattle | RNF20 | 2016 | 2016-09-01 |
OMIA 002041-9913 | Abortion (embryonic lethality), RPIA-related | Bos taurus | cattle | RPIA | 2016 | 2016-09-01 |
OMIA 002040-9913 | Abortion (embryonic lethality), SNAPC4-related | Bos taurus | cattle | SNAPC4 | 2016 | 2016-09-01 |
OMIA 002036-9913 | Abortion (embryonic lethality), TTF1-related | Bos taurus | cattle | TTF1 | 2016 | 2016-09-01 |
OMIA 001565-9913 | Abortion and stillbirth, MIMT1-related | Bos taurus | cattle | MIMT1 | 2010 | 2013-05-17 |
OMIA 001926-9913 | Achondrogenesis, type II | Bos taurus | cattle | COL2A1 | 2014 | 2020-12-15 |
OMIA 000004-9913 | Achondroplasia | Bos taurus | cattle | 2011-03-18 | ||
OMIA 001365-9913 | Achromatopsia-3, CNGB3-related | Bos taurus | cattle | CNGB3 | 2021 | 2021-12-24 |
OMIA 000593-9913 | Acrodermatitis enteropathica | Bos taurus | cattle | SLC39A4 | 2002 | 2012-12-05 |
OMIA 000010-9913 | Acroteriasis congenita | Bos taurus | cattle | 2011-03-18 | ||
OMIA 000036-9913 | Amputated | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000991-9913 | Androgen insensitivity syndrome (AIS) | Bos taurus | cattle | 2005-09-06 | ||
OMIA 000543-9913 | Anhidrotic ectodermal dysplasia, EDA-related | Bos taurus | cattle | EDA | 2001 | 2021-03-20 |
OMIA 002128-9913 | Anhidrotic ectodermal dysplasia, EDAR-related | Bos taurus | cattle | EDAR | 2017 | 2017-09-19 |
OMIA 000047-9913 | Ankylosis, generalised | Bos taurus | cattle | 2011-03-18 | ||
OMIA 001556-9913 | Ankylosis, jaw | Bos taurus | cattle | 2011-03-18 | ||
OMIA 001541-9913 | Arachnomelia, MOCS1-related | Bos taurus | cattle | MOCS1 | 2011 | 2013-12-30 |
OMIA 000059-9913 | Arachnomelia, SUOX-related | Bos taurus | cattle | SUOX | 2010 | 2020-05-26 |
OMIA 002135-9913 | Arthrogryposis multiplex congenita, AGRN-related | Bos taurus | cattle | AGRN | 2011 | 2019-08-21 |
OMIA 002022-9913 | Arthrogryposis multiplex congenita, CHRNB1-related | Bos taurus | cattle | CHRNB1 | 2016 | 2016-08-04 |
OMIA 001978-9913 | Arthrogryposis, distal, type 1B | Bos taurus | cattle | MYBPC1 | 2015 | 2015-12-31 |
OMIA 001953-9913 | Arthrogryposis, lethal syndrome | Bos taurus | cattle | PIGH | 2015 | 2015-04-19 |
OMIA 002167-9913 | Asthenospermia | Bos taurus | cattle | CCDC189 | 2019 | 2019-04-15 |
OMIA 000083-9913 | Atresia ani | Bos taurus | cattle | 2011-03-18 | ||
OMIA 001106-9913 | Axonopathy | Bos taurus | cattle | MFN2 | 2011 | 2021-11-24 |
OMIA 001437-9913 | Beta-lactoglobulin, aberrant low expression | Bos taurus | cattle | PAEP | 2006 | 2016-11-11 |
OMIA 000117-9913 | Blood group system A | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000120-9913 | Blood group system B | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000121-9913 | Blood group system C | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000124-9913 | Blood group system F | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000130-9913 | Blood group system J | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000132-9913 | Blood group system L | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000133-9913 | Blood group system M | Bos taurus | cattle | 2011-10-14 | ||
OMIA 001629-9913 | Blood group system N' | Bos taurus | cattle | 2011-10-14 | ||
OMIA 001630-9913 | Blood group system R' | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000139-9913 | Blood group system S | Bos taurus | cattle | 2011-10-14 | ||
OMIA 001631-9913 | Blood group system T' | Bos taurus | cattle | 2011-10-14 | ||
OMIA 001632-9913 | Blood group system Z | Bos taurus | cattle | 2011-10-14 | ||
OMIA 000151-9913 | Brachyspina | Bos taurus | cattle | FANCI | 2012 | 2015-03-24 |
OMIA 001502-9913 | Caprine-like generalized hypoplasia syndrome | Bos taurus | cattle | CEP250 | 2015 | 2018-01-25 |
OMIA 000160-9913 | Cardiomyopathy | Bos taurus | cattle | 2013-08-05 | ||
OMIA 000161-9913 | Cardiomyopathy and woolly haircoat syndrome | Bos taurus | cattle | PPP1R13L | 2009 | 2011-12-09 |
OMIA 000162-9913 | Cardiomyopathy, dilated | Bos taurus | cattle | OPA3 | 2011 | 2016-08-16 |
OMIA 002535-9913 | Cataract, ADAMTSL4-related | Bos taurus | cattle | ADAMTSL4 | 2022 | 2022-03-10 |
OMIA 000168-9913 | Cataract, generic | Bos taurus | cattle | 2012-08-24 | ||
OMIA 002111-9913 | Cataract, recessive, CPAMD8-related | Bos taurus | cattle | CPAMD8 | 2017 | 2020-01-28 |
OMIA 001936-9913 | Cataract, recessive, NID1-related | Bos taurus | cattle | NID1 | 2014 | 2014-10-29 |
OMIA 002374-9913 | Charcot Marie Tooth disease, FGD4-related | Bos taurus | cattle | FGD4 | 2021 | 2021-08-09 |
OMIA 000185-9913 | Chediak-Higashi syndrome | Bos taurus | cattle | LYST | 1999 | 2012-09-15 |
OMIA 001965-9913 | Cholesterol deficiency, APOB-related | Bos taurus | cattle | APOB | 2016 | 2021-04-17 |
OMIA 002540-9913 | Chondrodysplasia, EVC2-related | Bos taurus | cattle | EVC2 | 2002 | 2022-03-22 |
OMIA 001703-9913 | Chondrodysplasia, FGFR3-related | Bos taurus | cattle | FGFR3 | 2020 | 2020-04-18 |
OMIA 000194-9913 | Citrullinaemia | Bos taurus | cattle | ASS1 | 1989 | 2012-09-19 |
OMIA 001585-9913 | Cleft lip and jaw, right-sided | Bos taurus | cattle | 2012-11-23 | ||
OMIA 002410-9913 | CMAH enzyme deficiency | Bos taurus | cattle | 2021-08-28 | ||
OMIA 000201-9913 | Coat colour, agouti | Bos taurus | cattle | ASIP | 2006 | 2011-12-09 |
OMIA 000204-9913 | Coat colour, albinism, incomplete | Bos taurus | cattle | 2011-10-14 | ||
OMIA 001821-9913 | Coat colour, albinism, oculocutaneous type IV | Bos taurus | cattle | SLC45A2 | 2017 | 2017-10-11 |
OMIA 001249-9913 | Coat colour, brown, TYRP1-related | Bos taurus | cattle | TYRP1 | 2003 | 2012-09-21 |
OMIA 001576-9913 | Coat colour, colour-sided | Bos taurus | cattle | KIT | 2011 | 2020-04-24 |
OMIA 002318-9913 | Coat colour, dilution, FZD7-related | Bos taurus | cattle | FZD7 | 2021 | 2021-04-08 |
OMIA 000031-9913 | Coat colour, dilution, MLPH-related | Bos taurus | cattle | MLPH | 2015 | 2020-03-02 |
OMIA 001545-9913 | Coat colour, dilution, PMEL-related | Bos taurus | cattle | PMEL | 2007 | 2021-12-01 |
OMIA 001529-9913 | Coat colour, dominant red | Bos taurus | cattle | COPA | 2014 | 2017-09-19 |
OMIA 000209-9913 | Coat colour, dominant white | Bos taurus | cattle | KIT | 2010 | 2011-12-09 |
OMIA 001199-9913 | Coat colour, extension | Bos taurus | cattle | MC1R | 1995 | 2020-05-15 |
OMIA 000202-9913 | Coat colour, oculocutaneous albinism type I (OCA1), TYR-related | Bos taurus | cattle | TYR | 2004 | 2012-10-17 |
OMIA 001216-9913 | Coat colour, roan | Bos taurus | cattle | KITLG | 1999 | 2012-09-15 |
OMIA 001320-9913 | Coat colour, spotted | Bos taurus | cattle | 2020-08-20 | ||
OMIA 001469-9913 | Coat colour, white belt | Bos taurus | cattle | TWIST2 | 2017 | 2020-02-19 |
OMIA 001737-9913 | Coat colour, white spotting, KIT-related | Bos taurus | cattle | KIT | 2019 | 2020-02-25 |
OMIA 001340-9913 | Complex vertebral malformation | Bos taurus | cattle | SLC35A3 | 2006 | 2020-04-05 |
OMIA 002375-9913 | Congenital disorder of glycosylation, GALNT2-related | Bos taurus | cattle | GALNT2 | 2021 | 2022-02-24 |
OMIA 000313-9913 | Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia | Bos taurus | cattle | 2012-12-28 | ||
OMIA 001450-9913 | Congenital muscular dystonia 1 | Bos taurus | cattle | ATP2A1 | 2008 | 2013-08-16 |
OMIA 001451-9913 | Congenital muscular dystonia 2 | Bos taurus | cattle | LOC528050 | 2008 | 2021-09-01 |
OMIA 001511-9913 | Contractural arachnodactyly (Fawn calf syndrome) | Bos taurus | cattle | ADAMTSL3 | 2014 | 2021-04-17 |
OMIA 000246-9913 | Curly coat, karakul-type | Bos taurus | cattle | KRT27 | 2014 | 2019-03-02 |
OMIA 000262-9913 | Deficiency of uridine monophosphate synthase | Bos taurus | cattle | UMPS | 1993 | 2021-09-11 |
OMIA 001931-9913 | Depigmentation associated with microphthalmia | Bos taurus | cattle | MITF | 2014 | 2014-09-22 |
OMIA 002103-9913 | Developmental duplications | Bos taurus | cattle | NHLRC2 | 2014 | 2022-04-01 |
OMIA 001680-9913 | Dominant white with bilateral deafness | Bos taurus | cattle | MITF | 2011 | 2017-09-19 |
OMIA 001271-9913 | Dwarfism, ACAN-related | Bos taurus | cattle | ACAN | 2007 | 2019-03-28 |
OMIA 001659-9913 | Dwarfism, dominant | Bos taurus | cattle | 2011-10-24 | ||
OMIA 001985-9913 | Dwarfism, Fleckvieh | Bos taurus | cattle | GON4L | 2016 | 2021-09-16 |
OMIA 001294-9913 | Dwarfism, growth-hormone-receptor deficiency | Bos taurus | cattle | 2013-08-05 | ||
OMIA 001485-9913 | Dwarfism, PRKG2-related | Bos taurus | cattle | PRKG2 | 2009 | 2011-12-09 |
OMIA 000308-9913 | Dwarfism, proportionate | Bos taurus | cattle | 2020-09-14 | ||
OMIA 001686-9913 | Dwarfism, proportionate, with inflammatory lesions | Bos taurus | cattle | RNF11 | 2012 | 2017-07-11 |
OMIA 000310-9913 | Dwarfism, snorter | Bos taurus | cattle | 2011-09-16 | ||
OMIA 000311-9913 | Dwarfism, stumpy | Bos taurus | cattle | 2011-10-17 | ||
OMIA 000317-9913 | Ears, crop | Bos taurus | cattle | HMX1 | 2013 | 2013-11-08 |
OMIA 002295-9913 | Ehlers-Danlos syndrome, classic type, 2 | Bos taurus | cattle | COL5A2 | 2020 | 2020-11-04 |
OMIA 001716-9913 | Ehlers-Danlos syndrome, EPYC-related | Bos taurus | cattle | EPYC | 1999 | 2018-05-29 |
OMIA 000328-9913 | Ehlers-Danlos syndrome, type VII (Dermatosparaxis) | Bos taurus | cattle | ADAMTS2 | 1999 | 2016-10-28 |
OMIA 000340-9913 | Epidermolysis bullosa | Bos taurus | cattle | 2016-11-29 | ||
OMIA 000341-9913 | Epidermolysis bullosa, dystrophic | Bos taurus | cattle | COL7A1 | 2012 | 2016-12-06 |
OMIA 001948-9913 | Epidermolysis bullosa, junctionalis, ITGB4-related | Bos taurus | cattle | ITGB4 | 2015 | 2015-05-17 |
OMIA 001677-9913 | Epidermolysis bullosa, junctionalis, LAMA3-related | Bos taurus | cattle | LAMA3 | 2015 | 2015-09-28 |
OMIA 001678-9913 | Epidermolysis bullosa, junctionalis, LAMC2-related | Bos taurus | cattle | LAMC2 | 2015 | 2015-04-22 |
OMIA 002081-9913 | Epidermolysis bullosa, simplex, KRT5-related | Bos taurus | cattle | KRT5 | 2005 | 2020-11-05 |
OMIA 000343-9913 | Epididymal aplasia | Bos taurus | cattle | 2011-10-24 | ||
OMIA 000344-9913 | Epilepsy | Bos taurus | cattle |
Gene not yet published |
2019-08-21 | |
OMIA 000348-9913 | Epitheliogenesis imperfecta | Bos taurus | cattle | 2005-09-06 | ||
OMIA 002090-9913 | Facial dysplasia syndrome | Bos taurus | cattle | FGFR2 | 2017 | 2017-08-09 |
OMIA 000363-9913 | Factor XI deficiency | Bos taurus | cattle | F11 | 2000 | 2021-09-09 |
OMIA 000366-9913 | Fanconi syndrome | Bos taurus | cattle | SLC2A2 | 2016 | 2018-03-23 |
OMIA 001442-9913 | Forelimb-girdle muscular anomaly | Bos taurus | cattle | GFRA1 | 2013 | 2013-01-04 |
OMIA 002307-9913 | Frontonasal dysplasia | Bos taurus | cattle | ZIC2 | 2021 | 2021-01-24 |
OMIA 000402-9913 | Gangliosidosis, GM1 | Bos taurus | cattle | 2005-09-06 | ||
OMIA 000419-9913 | Glycogen storage disease II | Bos taurus | cattle | GAA | 2000 | 2021-11-24 |
OMIA 001139-9913 | Glycogen storage disease V | Bos taurus | cattle | PYGM | 1996 | 2015-09-28 |
OMIA 000424-9913 | Goitre, familial | Bos taurus | cattle | TG | 1987 | 2021-11-24 |
OMIA 000426-9913 | Gonadal hypoplasia | Bos taurus | cattle | KIT | 2013 | 2013-10-13 |
OMIA 001958-9913 | Growth retardation due to haplotype FH2 | Bos taurus | cattle | 2016-04-13 | ||
OMIA 000437-9913 | Haemophilia A | Bos taurus | cattle | F8 | 2009 | 2019-03-02 |
OMIA 000439-9913 | Hair, long | Bos taurus | cattle | 2016-09-15 | ||
OMIA 000441-9913 | Hairy | Bos taurus | cattle | PRL | 2014 | 2015-11-12 |
OMIA 001907-9913 | Haplotype with homozygous deficiency 05-1351 and 05-1476 | Bos taurus | cattle | 2014-02-12 | ||
OMIA 001906-9913 | Haplotype with homozygous deficiency 05-826 | Bos taurus | cattle | 2014-02-12 | ||
OMIA 001909-9913 | Haplotype with homozygous deficiency 07-501 | Bos taurus | cattle | 2014-02-12 | ||
OMIA 001910-9913 | Haplotype with homozygous deficiency 11-926, 11-976, 11-1001 and 11,1026 | Bos taurus | cattle | 2014-02-12 | ||
OMIA 001911-9913 | Haplotype with homozygous deficiency 19-151 | Bos taurus | cattle | 2014-02-12 | ||
OMIA 002134-9913 | Haplotype with homozygous deficiency AH2 | Bos taurus | cattle | RPAP2 | 2017 | 2019-04-11 |
OMIA 001825-9913 | Haplotype with homozygous deficiency BH1 | Bos taurus | cattle | 2022-01-14 | ||
OMIA 002518-9913 | Haplotype with homozygous deficiency BH14, MRPL55-related | Bos taurus | cattle | MRPL55 | 2021 | 2022-01-14 |
OMIA 001939-9913 | Haplotype with homozygous deficiency BH2, TUBD1-related | Bos taurus | cattle | TUBD1 | 2016 | 2022-01-14 |
OMIA 002519-9913 | Haplotype with homozygous deficiency BH24, CPT1C-related | Bos taurus | cattle | CPT1C | 2021 | 2022-01-14 |
OMIA 002517-9913 | Haplotype with homozygous deficiency BH6, MARS2-related | Bos taurus | cattle | MARS2 | 2021 | 2022-01-14 |
OMIA 001957-9913 | Haplotype with homozygous deficiency FH1 | Bos taurus | cattle | 2015-04-28 | ||
OMIA 001959-9913 | Haplotype with homozygous deficiency FH3 | Bos taurus | cattle | 2015-04-28 | ||
OMIA 001960-9913 | Haplotype with homozygous deficiency FH4 | Bos taurus | cattle | SUGT1 | 2015 | 2015-04-30 |
OMIA 000001-9913 | Haplotype with homozygous deficiency HH1, APAF1-related | Bos taurus | cattle | APAF1 | 2012 | 2016-06-14 |
OMIA 001834-9913 | Haplotype with homozygous deficiency HH10 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001833-9913 | Haplotype with homozygous deficiency HH11 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001835-9913 | Haplotype with homozygous deficiency HH12 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001836-9913 | Haplotype with homozygous deficiency HH13 | Bos taurus | cattle | KIR2DS1 | 2022 | 2022-04-04 |
OMIA 001837-9913 | Haplotype with homozygous deficiency HH14 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001838-9913 | Haplotype with homozygous deficiency HH15 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001839-9913 | Haplotype with homozygous deficiency HH16 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001840-9913 | Haplotype with homozygous deficiency HH17 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001823-9913 | Haplotype with homozygous deficiency HH2, IFT80-related | Bos taurus | cattle | IFT80 | 2021 | 2021-12-16 |
OMIA 001908-9913 | Haplotype with homozygous deficiency HH21 | Bos taurus | cattle | NOTCH3 | 2022 | 2022-04-04 |
OMIA 002547-9913 | Haplotype with homozygous deficiency HH25 | Bos taurus | cattle | RIOX1 | 2022 | 2022-04-04 |
OMIA 001824-9913 | Haplotype with homozygous deficiency HH3 | Bos taurus | cattle | SMC2 | 2013 | 2022-04-04 |
OMIA 002548-9913 | Haplotype with homozygous deficiency HH35 | Bos taurus | cattle | PCDH15 | 2022 | 2022-04-04 |
OMIA 001826-9913 | Haplotype with homozygous deficiency HH4 | Bos taurus | cattle | GART | 2013 | 2015-03-24 |
OMIA 001941-9913 | Haplotype with homozygous deficiency HH5 | Bos taurus | cattle | TFB1M | 2016 | 2016-05-03 |
OMIA 002149-9913 | Haplotype with homozygous deficiency HH6 | Bos taurus | cattle | SDE2 | 2018 | 2018-04-20 |
OMIA 001830-9913 | Haplotype with homozygous deficiency HH7, CENPU related | Bos taurus | cattle | CENPU | 2020 | 2020-03-14 |
OMIA 001831-9913 | Haplotype with homozygous deficiency HH8 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001832-9913 | Haplotype with homozygous deficiency HH9 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001697-9913 | Haplotype with homozygous deficiency JH1 | Bos taurus | cattle | CWC15 | 2013 | 2020-08-10 |
OMIA 001942-9913 | Haplotype with homozygous deficiency JH2 | Bos taurus | cattle | 2015-03-24 | ||
OMIA 001827-9913 | Haplotype with homozygous deficiency MH1 | Bos taurus | cattle | PFAS | 2013 | 2020-03-14 |
OMIA 001849-9913 | Haplotype with homozygous deficiency MH10 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001850-9913 | Haplotype with homozygous deficiency MH11 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001828-9913 | Haplotype with homozygous deficiency MH2 | Bos taurus | cattle | SLC37A2 | 2013 | 2019-11-19 |
OMIA 001842-9913 | Haplotype with homozygous deficiency MH3 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001843-9913 | Haplotype with homozygous deficiency MH4 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001844-9913 | Haplotype with homozygous deficiency MH5 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001845-9913 | Haplotype with homozygous deficiency MH6 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001846-9913 | Haplotype with homozygous deficiency MH7 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001847-9913 | Haplotype with homozygous deficiency MH8 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001848-9913 | Haplotype with homozygous deficiency MH9 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001851-9913 | Haplotype with homozygous deficiency NH1 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001852-9913 | Haplotype with homozygous deficiency NH2 | Bos taurus | cattle | 2019-06-04 | ||
OMIA 001853-9913 | Haplotype with homozygous deficiency NH3 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001854-9913 | Haplotype with homozygous deficiency NH4 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001829-9913 | Haplotype with homozygous deficiency NH5 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 001855-9913 | Haplotype with homozygous deficiency NH6 | Bos taurus | cattle | 2013-06-14 | ||
OMIA 002201-9913 | Haplotype with homozygous deficiency NH7, CAD-related | Bos taurus | cattle | CAD | 2019 | 2020-05-15 |
OMIA 002515-9913 | Haplotype with homozygous deficiency OH2, TUBGCP5-related | Bos taurus | cattle | TUBGCP5 | 2021 | 2022-01-14 |
OMIA 002516-9913 | Haplotype with homozygous deficiency OH4, LIG3-related | Bos taurus | cattle | LIG3 | 2021 | 2022-01-14 |
OMIA 002505-9913 | Haplotype with homozygous deficiency SH5, DIS3-related | Bos taurus | cattle | DIS3 | 2021 | 2022-01-13 |
OMIA 002508-9913 | Haplotype with homozygous deficiency SH8, CYP2B6-related | Bos taurus | cattle | CYP2B6 | 2021 | 2022-01-13 |
OMIA 002509-9913 | Haplotype with homozygous deficiency SH9, NUBPL-related | Bos taurus | cattle | NUBPL | 2021 | 2022-01-13 |
OMIA 002395-9913 | Haplotype with homozygous deficiency, AA14H3 | Bos taurus | cattle | 2021-08-25 | ||
OMIA 002396-9913 | Haplotype with homozygous deficiency, CH19H2 | Bos taurus | cattle | 2021-08-25 | ||
OMIA 001901-9913 | Haplotype with homozygous deficiency, RNASEH2B-related | Bos taurus | cattle | RNASEH2B | 2014 | 2022-01-29 |
OMIA 002397-9913 | Haplotype with homozygous deficiency, SI16H5 | Bos taurus | cattle | 2021-08-25 | ||
OMIA 002479-9913 | Hemifacial microsomia, LAMB1-related | Bos taurus | cattle | LAMB1 | 2022 | 2022-01-29 |
OMIA 001009-9913 | Hemimelia, tibial | Bos taurus | cattle | ALX4 | 2012 | 2015-06-21 |
OMIA 002532-9913 | Hernia, abdominal, TWIST1-related | Bos taurus | cattle | TWIST1 | 2022 | 2022-02-24 |
OMIA 000468-9913 | Heterochromia irides/iridis | Bos taurus | cattle | 2011-12-02 | ||
OMIA 002444-9913 | Hydrallantois, SLC12A1-related | Bos taurus | cattle | SLC12A1 | 2016 | 2021-09-30 |
OMIA 000487-9913 | Hydrocephalus | Bos taurus | cattle |
Gene not yet published |
2019-08-21 | |
OMIA 000493-9913 | Hydrops foetalis | Bos taurus | cattle | 2011-03-18 | ||
OMIA 000495-9913 | Hyperbilirubinaemia, unclassified | Bos taurus | cattle | 2005-09-06 | ||
OMIA 000527-9913 | Hypomyelinogenesis, congenital | Bos taurus | cattle | KIF1C | 2018 | 2020-12-04 |
OMIA 001544-9913 | Hypotrichosis with coat-colour dilution (rat-tail syndrome) | Bos taurus | cattle | sMC1R, PMEL | 2016 | 2020-10-23 |
OMIA 002230-9913 | Hypotrichosis, HEPHL1-related | Bos taurus | cattle | HEPHL1 | 2012 | 2021-05-21 |
OMIA 002114-9913 | Hypotrichosis, KRT71-related | Bos taurus | cattle | KRT71 | 2010 | 2021-08-13 |
OMIA 000542-9913 | Hypotrichosis, streaked | Bos taurus | cattle | TSR2 | 2015 | 2016-08-15 |
OMIA 002238-9913 | Ichthyosis, ABCA12-related | Bos taurus | cattle | ABCA12 | 2008 | 2020-06-23 |
OMIA 002243-9913 | Ichthyosis, DSP-related | Bos taurus | cattle | DSP | 2022 | 2022-01-11 |
OMIA 002450-9913 | Ichthyosis, FA2H-related | Bos taurus | cattle | FA2H | 2021 | 2021-10-07 |
OMIA 002271-9913 | Immunodeficiency, IL17RA-related | Bos taurus | cattle | IL17RA | 2020 | 2020-06-02 |
OMIA 002102-9913 | Iridal hypopigmentation, bilateral | Bos taurus | cattle | 2017-08-27 | ||
OMIA 001722-9913 | Lethal multi-organ developmental dysplasia | Bos taurus | cattle | KDM2B | 2012 | 2020-06-11 |
OMIA 002260-9913 | Lethality, COL6A3-related | Bos taurus | cattle | COL6A3 | 2017 | 2020-04-05 |
OMIA 002262-9913 | Lethality, CSNK1G2-related | Bos taurus | cattle | CSNK1G2 | 2017 | 2020-04-05 |
OMIA 002259-9913 | Lethality, FAM189A1-related | Bos taurus | cattle | FAM189A1 | 2017 | 2020-04-05 |
OMIA 002261-9913 | Lethality, ITGA3-related | Bos taurus | cattle | ITGA3 | 2017 | 2020-04-05 |
OMIA 002258-9913 | Lethality, SOWAHB-related | Bos taurus | cattle | SOWAHB | 2017 | 2020-04-05 |
OMIA 000595-9913 | Leukocyte adhesion deficiency, type I | Bos taurus | cattle | ITGB2 | 1992 | 2021-07-09 |
OMIA 000601-9913 | Limber legs | Bos taurus | cattle | 2011-12-01 | ||
OMIA 000603-9913 | Limbs, curved | Bos taurus | cattle | 2011-03-18 | ||
OMIA 002226-9913 | Lipid malabsorption, ACSL5-related | Bos taurus | cattle | ACSL5 | 2021 | 2022-01-14 |
OMIA 001407-9913 | Lipofuscinosis, renal | Bos taurus | cattle | 2013-05-21 | ||
OMIA 001557-9913 | Ljutikow's lethal | Bos taurus | cattle | 2011-03-18 | ||
OMIA 001902-9913 | Male subfertility, TMEM95-related | Bos taurus | cattle | TMEM95 | 2014 | 2017-08-04 |
OMIA 002288-9913 | Mandibulofacial dysostosis | Bos taurus | cattle | CYP26C1 | 2020 | 2020-10-23 |
OMIA 000625-9913 | Mannosidosis, alpha | Bos taurus | cattle | MAN2B1 | 1997 | 2020-10-15 |
OMIA 000626-9913 | Mannosidosis, beta | Bos taurus | cattle | MANBA | 1999 | 2020-10-01 |
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 001558-9913 | Micromelia, achondroplastic | Bos taurus | cattle | 2011-03-18 | ||
OMIA 000656-9913 | Molars, impacted | Bos taurus | cattle | 2011-03-18 | ||
OMIA 000664-9913 | Mucopolysaccharidosis I | Bos taurus | cattle | 2005-09-06 | ||
OMIA 001342-9913 | Mucopolysaccharidosis IIIB | Bos taurus | cattle | NAGLU | 2007 | 2021-11-24 |
OMIA 002423-9913 | Multiple ocular defects, WFDC1-related | Bos taurus | cattle | WFDC1 | 2009 | 2021-09-11 |
OMIA 000673-9913 | Mummified foetus | Bos taurus | cattle | 2011-03-18 | ||
OMIA 000674-9913 | Muscle contracture | Bos taurus | cattle | 2011-03-18 | ||
OMIA 000683-9913 | Muscular hypertrophy (double muscling) | Bos taurus | cattle | MSTN | 1997 | 2021-08-11 |
OMIA 000685-9913 | Myasthenic syndrome, congenital, CHRNE-related | Bos taurus | cattle | CHRNE | 2002 | 2012-09-21 |
OMIA 000827-9913 | Myeloencephalopathy, progressive degenerative (Weaver syndrome) | Bos taurus | cattle | PNPLA8 | 2016 | 2021-11-24 |
OMIA 000689-9913 | Myoclonus | Bos taurus | cattle | GLRA1 | 2001 | 2021-07-14 |
OMIA 001319-9913 | Myopathy of the diaphragmatic muscles | Bos taurus | cattle | HSPA1A | 2003 | 2012-09-21 |
OMIA 002125-9913 | Neurocristopathy | Bos taurus | cattle | CHD7 | 2017 | 2022-03-17 |
OMIA 002483-9913 | Neuromuscular channelopathy, KCNG1-related | Bos taurus | cattle | KCNG1 | 2021 | 2021-12-01 |
OMIA 001482-9913 | Neuronal ceroid lipofuscinosis, 5 | Bos taurus | cattle | CLN5 | 2006 | 2015-10-01 |
OMIA 000181-9913 | Neuronal Ceroid Lipofuscinosis, generic | Bos taurus | cattle | 2021-09-24 | ||
OMIA 002298-9913 | Neuropathy with splayed forelimbs, UCHL1-related | Bos taurus | cattle | UCHL1 | 2022 | 2022-01-29 |
OMIA 000725-9913 | Niemann-Pick disease, type C1 | Bos taurus | cattle | NPC1 | 2020 | 2020-09-26 |
OMIA 002101-9913 | Oculocutaneous hypopigmentation | Bos taurus | cattle |
Gene not yet published |
2015 | 2017-04-13 |
OMIA 002127-9913 | Osteogenesis imperfecta, type II, COL1A1-related | Bos taurus | cattle | COL1A1 | 2017 | 2021-02-24 |
OMIA 001887-9913 | Osteopetrosis with gingival hamartomas | Bos taurus | cattle | CLCN7 | 2014 | 2021-08-17 |
OMIA 002443-9913 | Osteopetrosis, SLC4A2-related | Bos taurus | cattle | SLC4A2 | 2010 | 2021-09-28 |
OMIA 001230-9913 | Ovotesticular DSD (Disorder of Sexual Development) | Bos taurus | cattle | SRY | 1996 | 2013-02-20 |
OMIA 001817-9913 | Perinatal weak calf syndrome | Bos taurus | cattle | IARS | 2013 | 2021-08-11 |
OMIA 001736-9913 | Polled and multisystemic syndrome | Bos taurus | cattle | ZEB2 | 2012 | 2020-10-21 |
OMIA 000483-9913 | Polled/Horns | Bos taurus | cattle | POLLED | 2012 | 2021-08-27 |
OMIA 001175-9913 | Porphyria, congenital erythropoietic | Bos taurus | cattle | 2012-06-08 | ||
OMIA 000834-9913 | Protamine-2 deficiency | Bos taurus | cattle | 2005-09-06 | ||
OMIA 000836-9913 | Protoporphyria | Bos taurus | cattle | FECH | 1998 | 2021-11-24 |
OMIA 001464-9913 | Pseudomyotonia, congenital | Bos taurus | cattle | ATP2A1 | 2008 | 2021-11-24 |
OMIA 001934-9913 | Ptosis, intellectual disability, retarded growth and mortality (PIRM) syndrome (Haplotype AH1) | Bos taurus | cattle | UBE3B | 2014 | 2019-04-11 |
OMIA 001562-9913 | Pulmonary hypoplasia with anasarca | Bos taurus | cattle | ADAMTS3 | 2020 | 2020-10-27 |
OMIA 000850-9913 | Rectovaginal constriction | Bos taurus | cattle | 2013-06-12 | ||
OMIA 001135-9913 | Renal dysplasia | Bos taurus | cattle | CLDN16 | 2000 | 2012-09-17 |
OMIA 002073-9913 | Resistance/susceptibility to Mannheimia haemolytica leukotoxin | Bos taurus | cattle | ITGB2 | 2016 | 2020-05-15 |
OMIA 002029-9913 | Retinitis pigmentosa 1 | Bos taurus | cattle | RP1 | 2016 | 2016-08-11 |
OMIA 001593-9913 | Scurs, type 2 | Bos taurus | cattle | TWIST1 | 2011 | 2015-10-01 |
OMIA 000911-9913 | Short spine | Bos taurus | cattle | 2011-03-18 | ||
OMIA 002381-9913 | Skeletal-cardio-enteric dysplasia, MAP2K2-related | Bos taurus | cattle | MAP2K2 | 2021 | 2021-08-11 |
OMIA 001372-9913 | Slick hair | Bos taurus | cattle | PRLR | 2014 | 2022-04-08 |
OMIA 000927-9913 | Spastic lethal | Bos taurus | cattle | 2020-05-15 | ||
OMIA 001334-9913 | Sperm, short tail | Bos taurus | cattle | ARMC3 | 2016 | 2016-03-04 |
OMIA 001228-9913 | Spherocytosis | Bos taurus | cattle | SLC4A1 | 1996 | 2013-06-07 |
OMIA 001247-9913 | Spinal dysmyelination | Bos taurus | cattle | SPAST | 2010 | 2015-03-24 |
OMIA 002390-9913 | Spinal muscular atrophy, KDSR-related | Bos taurus | cattle | KDSR | 2007 | 2021-08-19 |
OMIA 002311-9913 | sterile, male-NANOS2 related | Bos taurus | cattle | 2021-02-18 | ||
OMIA 001991-9913 | Stillbirth | Bos taurus | cattle | sBTBD9, DNAH8, GLO1 | 2016 | 2022-01-30 |
OMIA 000963-9913 | Syndactyly (mule foot) | Bos taurus | cattle | LRP4 | 2006 | 2021-04-01 |
OMIA 002150-9913 | Syndrome des veaux tourneurs (Turning calves syndrome) | Bos taurus | cattle | SLC25A46 | 2017 | 2020-05-15 |
OMIA 001452-9913 | Tail, crooked | Bos taurus | cattle | MRC2 | 2009 | 2016-08-15 |
OMIA 000973-9913 | Tail, kinky | Bos taurus | cattle | 2010-10-27 | ||
OMIA 001510-9913 | Tail, wry | Bos taurus | cattle | 2010-10-27 | ||
OMIA 000992-9913 | Testicular hypoplasia | Bos taurus | cattle | 2011-11-04 | ||
OMIA 002297-9913 | Tetradysmelia | Bos taurus | cattle | RSPO2 | 2020 | 2020-11-26 |
OMIA 002433-9913 | Thrombopathia, RASGRP2-related | Bos taurus | cattle | RASGRP2 | 2007 | 2021-09-25 |
OMIA 002109-9913 | Tricho-dento-osseous-like syndrome | Bos taurus | cattle | DLX3 | 2017 | 2017-07-05 |
OMIA 001360-9913 | Trimethylaminuria (fishy taint) | Bos taurus | cattle | FMO3 | 2002 | 2013-11-30 |
OMIA 001951-9913 | Vertebral and spinal dysplasia | Bos taurus | cattle | T | 2015 | 2020-05-23 |
OMIA 001048-9913 | Vertical fibre hide defect | Bos taurus | cattle | 2005-09-06 | ||
OMIA 001819-9913 | Xanthinuria, type II | Bos taurus | cattle | MOCOS | 2000 | 2020-11-02 |
OMIA 001079-9913 | Yellow fat | Bos taurus | cattle | BCO2 | 2009 | 2011-12-09 |
OMIA 001935-9913 | Zinc deficiency-like syndrome | Bos taurus | cattle | PLD4 | 2014 | 2014-10-29 |