Search Results

Advanced search

117 phene records found

[show instead gene records]

By default, tables are sorted chronologically by Date Last Modified.

Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order.

To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 001481-9940Achromatopsia-2, CNGA3-relatedOvis ariessheep CNGA3 2010 2022-01-14
OMIA 000060-9940ArgininaemiaOvis ariessheep 2005-09-06
OMIA 001465-9940Arthrogryposis multiplex congenita, genericOvis ariessheep 2010-11-16
OMIA 000069-9940Arthrogryposis, genericOvis ariessheep 2011-02-11
OMIA 001723-9940Ataxia, familial episodic spinocerebellarOvis ariessheep FGF14 2017 2021-09-10
OMIA 000117-9940Blood group system AOvis ariessheep 2020-05-15
OMIA 000120-9940Blood group system BOvis ariessheep 2020-05-15
OMIA 000121-9940Blood group system COvis ariessheep 2020-05-15
OMIA 000122-9940Blood group system DOvis ariessheep 2020-05-15
OMIA 000125-9940Blood group system F30Ovis ariessheep 2020-08-20
OMIA 000126-9940Blood group system F41Ovis ariessheep 2020-05-15
OMIA 000129-9940Blood group system IOvis ariessheep 2020-05-15
OMIA 000133-9940Blood group system MOvis ariessheep 2020-05-15
OMIA 000137-9940Blood group system ROvis ariessheep 2020-05-15
OMIA 001237-9940Blood group system XOvis ariessheep 2020-05-15
OMIA 001595-9940Brachygnathia, cardiomegaly and renal hypoplasia syndromeOvis ariessheep OBSL1 2020 2020-09-19
OMIA 000168-9940Cataract, genericOvis ariessheep 2012-06-14
OMIA 000175-9940Cerebellar abiotrophyOvis ariessheep 2022-10-27
OMIA 001616-9940Chondrodysplasia, "llama syndrome"Ovis ariessheep 2011-10-03
OMIA 001703-9940Chondrodysplasia, FGFR3-relatedOvis ariessheep FGFR3 1998 2016-04-28
OMIA 001400-9940Chondrodysplasia, SLC13A1-relatedOvis ariessheep SLC13A1 2012 2013-11-25
OMIA 002342-9940Ciliary dyskinesia, primary, CCDC65-relatedOvis ariessheep CCDC65 2022 2022-01-29
OMIA 000201-9940Coat colour, agoutiOvis ariessheep ASIP 2008 2021-08-25
OMIA 002280-9940Coat colour, albinism, genericOvis ariessheep 2020-06-29
OMIA 001249-9940Coat colour, brown, TYRP1-relatedOvis ariessheep TYRP1 2007 2019-10-04
OMIA 000031-9940Coat colour, dilution, MLPH-relatedOvis ariessheep MLPH 2020 2020-06-11
OMIA 001199-9940Coat colour, extensionOvis ariessheep MC1R 1999 2022-09-17
OMIA 000591-9940Coat colour, lethal grey/grayOvis ariessheep 2006-04-28
OMIA 001794-9940Cystic fibrosisOvis ariessheep CFTR 2017 2022-08-24
OMIA 002413-9940Deafness, OTOF-relatedOvis ariessheep 2021-08-30
OMIA 000328-9940Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-relatedOvis ariessheep ADAMTS2 2012 2022-06-02
OMIA 000302-9940Dwarfism, AnconOvis ariessheep 2016-04-28
OMIA 000327-9940Ehlers-Danlos syndrome, genericOvis ariessheep 2005-09-06
OMIA 000341-9940Epidermolysis bullosa, dystrophicOvis ariessheep 2005-09-06
OMIA 001948-9940Epidermolysis bullosa, junctionalis, ITGB4-relatedOvis ariessheep ITGB4 2015 2020-11-30
OMIA 001678-9940Epidermolysis bullosa, junctionalis, LAMC2-relatedOvis ariessheep LAMC2 2011 2013-11-25
OMIA 000348-9940Epitheliogenesis imperfectaOvis ariessheep 2005-09-06
OMIA 002407-9940Exercise intolerance, cytochrome B-relatedOvis ariessheep CYTB 2019 2021-08-28
OMIA 001885-9940Fecundity, B4GALNT2-relatedOvis ariessheep B4GALNT2 2013 2013-11-14
OMIA 002306-9940Fecundity, BMP15-relatedOvis ariessheep BMP15 2000 2022-11-11
OMIA 000383-9940Fecundity, BMPR1B-relatedOvis ariessheep BMPR1B 2001 2022-11-23
OMIA 001802-9940Fecundity, Davisdale, FecDOvis ariessheep 2013-05-04
OMIA 002362-9940Fecundity, GDF9-relatedOvis ariessheep GDF9 2004 2022-01-09
OMIA 001862-9940Fecundity, Wishart, FecWOvis ariessheep 2013-06-28
OMIA 001338-9940Fecundity, WoodlandsOvis ariessheep 2020-05-15
OMIA 001528-9940Fleece variation (woolly vs hairy)Ovis ariessheep IRF2BP2 2017 2022-09-17
OMIA 000392-9940Fragile siteOvis ariessheep 2005-09-06
OMIA 000402-9940Gangliosidosis, GM1Ovis ariessheep GLB1 2012 2018-02-08
OMIA 001461-9940Gangliosidosis, GM2, type I (B variant)Ovis ariessheep HEXA 2010 2021-09-17
OMIA 000405-9940Gaucher disease, type IOvis ariessheep GBA 2011 2017-10-17
OMIA 000419-9940Glycogen storage disease IIOvis ariessheep 2005-09-06
OMIA 001139-9940Glycogen storage disease VOvis ariessheep PYGM 1997 2012-09-03
OMIA 000424-9940Goitre, familialOvis ariessheep 2012-05-21
OMIA 000437-9940Haemophilia AOvis ariessheep F8 2010 2020-05-22
OMIA 000439-9940Hair, longOvis ariessheep 2021-08-27
OMIA 000443-9940Halo hair 1Ovis ariessheep 2012-05-21
OMIA 002337-9940Haplotype with homozygous deficiency, LDHH1Ovis ariessheep 2021-05-26
OMIA 002346-9940Haplotype with homozygous deficiency, LDHH10Ovis ariessheep 2021-05-26
OMIA 002347-9940Haplotype with homozygous deficiency, LDHH11Ovis ariessheep 2021-05-26
OMIA 002338-9940Haplotype with homozygous deficiency, LDHH2Ovis ariessheep 2021-05-26
OMIA 002339-9940Haplotype with homozygous deficiency, LDHH3Ovis ariessheep 2021-05-26
OMIA 002340-9940Haplotype with homozygous deficiency, LDHH4Ovis ariessheep 2021-05-26
OMIA 002341-9940Haplotype with homozygous deficiency, LDHH5Ovis ariessheep 2021-05-26
OMIA 002343-9940Haplotype with homozygous deficiency, LDHH7Ovis ariessheep 2021-05-26
OMIA 002344-9940Haplotype with homozygous deficiency, LDHH8Ovis ariessheep 2021-05-26
OMIA 002345-9940Haplotype with homozygous deficiency, LDHH9Ovis ariessheep 2021-05-26
OMIA 000496-9940Hyperbilirubinaemia IOvis ariessheep 2005-09-06
OMIA 000497-9940Hyperbilirubinaemia IIOvis ariessheep 2005-09-06
OMIA 001672-9940Hyperoxaluria, primary, type I (Oxalosis I)Ovis ariessheep AGXT 2020 2020-11-05
OMIA 002162-9940HypophosphatasiaOvis ariessheep ALPL 2018 2022-09-11
OMIA 001542-9940Hypophosphatemic rickets, autosomal recessive, 1Ovis ariessheep DMP1 2011 2013-11-25
OMIA 000540-9940Hypotrichosis, genericOvis ariessheep 2020-01-27
OMIA 002229-9940Hypotrichosis, HR-relatedOvis ariessheep HR 2003 2020-01-27
OMIA 000578-9940Krabbe diseaseOvis ariessheep 2011-10-24
OMIA 001867-9940Lissencephaly and cerebellar hypoplasiaOvis ariessheep RELN 2013 2013-11-24
OMIA 000610-9940Lustrous woolOvis ariessheep 2005-09-06
OMIA 000625-9940Mannosidosis, alphaOvis ariessheep 2005-09-06
OMIA 002176-9940Meckel-like hepatorenal fibrocystic dysplasia syndromeOvis ariessheep TMEM67 2017 2020-03-10
OMIA 002563-9940Melatonin-enriched milkOvis ariessheep sAANAT, ASMT 2017 2022-08-25
OMIA 000640-9940Menkes diseaseOvis ariessheep 2005-09-06
OMIA 000649-9940MicrophthalmiaOvis ariessheep PITX3 2010 2019-03-15
OMIA 001952-9940MicrotiaOvis ariessheep HMX1 2020 2020-01-31
OMIA 000662-9940Motor neuron disease, lowerOvis ariessheep AGTPBP1 2012 2012-03-21
OMIA 000679-9940Muscular dystrophyOvis ariessheep 2005-09-06
OMIA 002285-9940Muscular dystrophy, TNNT1-relatedOvis ariessheep TNNT1 2020 2020-08-31
OMIA 001354-9940Muscular hypertrophy (double muscling), CallipygeOvis ariessheep DLK1 2002 2012-09-21
OMIA 001355-9940Muscular hypertrophy (double muscling), CarwellOvis ariessheep 2013-11-18
OMIA 001426-9940Muscular hypertrophy (double muscling), TexelOvis ariessheep MSTN 2006 2022-10-27
OMIA 000698-9940MyotoniaOvis ariessheep CLCN1 2015 2015-03-08
OMIA 002105-9940Neuroaxonal dystrophy, PLA2G6-relatedOvis ariessheep PLA2G6 2020 2020-11-11
OMIA 001504-9940Neuronal ceroid lipofuscinosis, 1Ovis ariessheep 2019 2022-09-11
OMIA 001505-9940Neuronal ceroid lipofuscinosis, 10Ovis ariessheep LOC443060 2000 2017-12-12
OMIA 001482-9940Neuronal ceroid lipofuscinosis, 5Ovis ariessheep CLN5 2008 2013-08-20
OMIA 001443-9940Neuronal ceroid lipofuscinosis, 6Ovis ariessheep CLN6 2006 2013-08-20
OMIA 000181-9940Neuronal Ceroid Lipofuscinosis, genericOvis ariessheep 2021-09-24
OMIA 001236-9940Nucleoside transport defectOvis ariessheep 2005-09-06
OMIA 000754-9940Osteogenesis imperfecta, genericOvis ariessheep 2011-10-03
OMIA 002227-9940Otocephaly, OTX2-relatedOvis ariessheep OTX2 2020 2020-01-25
OMIA 002552-9940Pancreatic agenesis, PDX1-relatedOvis ariessheep PDX1 2017 2022-05-31
OMIA 000483-9940Polled/HornsOvis ariessheep RXFP2 2011 2020-05-15
OMIA 000806-9940PolyceratyOvis ariessheep HOXD1 2021 2021-02-04
OMIA 000807-9940Polycystic kidney diseaseOvis ariessheep 2006-05-06
OMIA 001176-9940Porphyria cutanea tardaOvis ariessheep urod 2005 2017-12-12
OMIA 000818-9940Potassium transport in red blood cellsOvis ariessheep 2005-09-06
OMIA 001234-9940Reduced glutathione deficiency due to amino-acid transport defectOvis ariessheep 2005-09-06
OMIA 000853-9940Reduced glutathione deficiency due to GCS deficiencyOvis ariessheep 2005-09-06
OMIA 001235-9940Reduced glutathione deficiency, unclassifiedOvis ariessheep 2005-09-06
OMIA 000864-9940Response to noradrenaline, lack of non-shivering thermogenesisOvis ariessheep 2022-10-21
OMIA 000914-9940Silky woolOvis ariessheep 2011-10-26
OMIA 000933-9940Spina bifidaOvis ariessheep 2011-02-11
OMIA 001705-9940Sterility, Irish CambridgeOvis ariessheep 2012-07-08
OMIA 000977-9940TaillessnessOvis ariessheep 2011-10-04
OMIA 002601-9940Type I interferon receptor deficiencyOvis ariessheep IFNAR2 2022 2022-11-24
OMIA 001054-9940Vitamin-K-dependent blood coagulation factors deficiencyOvis ariessheep 2006-08-22
OMIA 001765-9940Waardenburg syndrome, type 4AOvis ariessheep EDNRB 2012 2018-01-29
OMIA 001598-9940Wool sheddingOvis ariessheep 2013-07-12
OMIA 001079-9940Yellow fatOvis ariessheep BCO2 2010 2021-08-11