Search Results

Advanced search

129 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 000018-9940Afibrinogenaemia or hypofibrinogenaemiaOvis ariessheep 2005-09-06
OMIA 000022-9940AgnathiaOvis ariessheep 2005-09-06
OMIA 000030-9940Alopecia, genericOvis ariessheep 2005-09-06
OMIA 000033-9940Alzheimer disease, genericOvis ariessheep 2022-11-10
OMIA 000044-9940Anencephaly/ExencephalyOvis ariessheep 2006-01-20
OMIA 000060-9940ArgininaemiaOvis ariessheep 2005-09-06
OMIA 001723-9940Ataxia, familial episodic spinocerebellarOvis ariessheep FGF14 2017 2021-09-10
OMIA 001595-9940Brachygnathia, cardiomegaly and renal hypoplasia syndromeOvis ariessheep OBSL1 2020 2020-09-19
OMIA 000175-9940Cerebellar abiotrophyOvis ariessheep 2022-10-27
OMIA 001764-9940Choanal atresiaOvis ariessheep 2013-01-09
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 000197-9940Cleft palateOvis ariessheep 2005-09-06
OMIA 000201-9940Coat colour, agoutiOvis ariessheep ASIP 2008 2021-08-25
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 000243-9940CryptorchidismOvis ariessheep 2005-09-06
OMIA 001794-9940Cystic fibrosisOvis ariessheep CFTR 2017 2022-08-24
OMIA 000258-9940Dandy-Walker syndromeOvis ariessheep 2005-09-06
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 001579-9940Ear sizeOvis ariessheep 2021-06-16
OMIA 000319-9940Ears, folded (drop vs prick)Ovis ariessheep 2020-10-23
OMIA 000324-9940EctrodactylyOvis ariessheep 2005-09-06
OMIA 000327-9940Ehlers-Danlos syndrome, genericOvis ariessheep 2005-09-06
OMIA 000335-9940EncephalomyelopathyOvis ariessheep 2021-09-10
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 002362-9940Fecundity, GDF9-relatedOvis ariessheep GDF9 2004 2022-01-09
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 000426-9940Gonadal hypoplasiaOvis ariessheep 2005-09-06
OMIA 001813-9940HaemangiosarcomaOvis ariessheep 2013-05-22
OMIA 000437-9940Haemophilia AOvis ariessheep F8 2010 2020-05-22
OMIA 000439-9940Hair, longOvis ariessheep 2021-08-27
OMIA 000459-9940Hernia, diaphragmaticOvis ariessheep 2005-09-06
OMIA 000462-9940Hernia, inguinalOvis ariessheep 2005-09-06
OMIA 000468-9940Heterochromia irides/iridisOvis ariessheep 2005-09-06
OMIA 000473-9940Hip dysplasiaOvis ariessheep 2005-09-06
OMIA 000478-9940HoloprosencephalyOvis ariessheep 2010-05-12
OMIA 000485-9940Huntington diseaseOvis ariessheep 2022-11-29
OMIA 000487-9940HydrocephalusOvis ariessheep 2021-09-10
OMIA 000493-9940Hydrops foetalisOvis ariessheep 2017-12-08
OMIA 000496-9940Hyperbilirubinaemia IOvis ariessheep 2005-09-06
OMIA 000497-9940Hyperbilirubinaemia IIOvis ariessheep 2005-09-06
OMIA 000495-9940Hyperbilirubinaemia, unclassifiedOvis ariessheep 2005-09-06
OMIA 001672-9940Hyperoxaluria, primary, type I (Oxalosis I)Ovis ariessheep AGXT 2020 2020-11-05
OMIA 000526-9940Hypomyelination of the central nervous systemOvis ariessheep 2022-09-14
OMIA 002162-9940HypophosphatasiaOvis ariessheep ALPL 2018 2022-09-11
OMIA 001542-9940Hypophosphatemic rickets, autosomal recessive, 1Ovis ariessheep DMP1 2011 2013-11-25
OMIA 001187-9940HypospadiasOvis ariessheep 2005-09-06
OMIA 000536-9940Hypothyroidism, congenitalOvis ariessheep 2005-09-06
OMIA 000540-9940Hypotrichosis, genericOvis ariessheep 2020-01-27
OMIA 002229-9940Hypotrichosis, HR-relatedOvis ariessheep HR 2003 2020-01-27
OMIA 002193-9940Ichthyosis, fetalisOvis ariessheep 2019-04-30
OMIA 000562-9940InfertilityOvis ariessheep 2022-08-24
OMIA 001227-9940Intussusception, susceptibility toOvis ariessheep 2011-10-17
OMIA 000576-9940Knobbed acrosomeOvis ariessheep 2012-05-21
OMIA 000578-9940Krabbe diseaseOvis ariessheep 2011-10-24
OMIA 001867-9940Lissencephaly and cerebellar hypoplasiaOvis ariessheep RELN 2013 2013-11-24
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 000642-9940Mesangiocapillary glomerulonephritis, type IOvis ariessheep 2005-09-06
OMIA 002371-9940Microcephaly, MFSD2A-related (inactive)Ovis ariessheep 2021-08-05
OMIA 001952-9940MicrotiaOvis ariessheep HMX1 2020 2020-01-31
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 001426-9940Muscular hypertrophy (double muscling), TexelOvis ariessheep MSTN 2006 2022-10-27
OMIA 000698-9940MyotoniaOvis ariessheep CLCN1 2015 2015-03-08
OMIA 000703-9940NarcolepsyOvis ariessheep 2005-09-06
OMIA 000710-9940NephropathyOvis ariessheep 2005-09-06
OMIA 000715-9940Neuroaxonal dystrophy, genericOvis ariessheep 2005-09-06
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 000735-9940Ocular squamous cell carcinomaOvis ariessheep 2019-03-28
OMIA 000747-9940OsteoarthritisOvis ariessheep 2005-09-06
OMIA 000750-9940OsteochondrosisOvis ariessheep 2011-10-04
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 000779-9940Patent ductus arteriosusOvis ariessheep 2005-09-06
OMIA 002581-9940Pelvic organ prolapse, susceptibility toOvis ariessheep 2022-10-24
OMIA 000483-9940Polled/HornsOvis ariessheep RXFP2 2011 2020-05-15
OMIA 000807-9940Polycystic kidney diseaseOvis ariessheep 2006-05-06
OMIA 000810-9940PolydactylyOvis ariessheep 2011-10-04
OMIA 001176-9940Porphyria cutanea tardaOvis ariessheep urod 2005 2017-12-12
OMIA 000830-9940Progressive retinal atrophyOvis ariessheep 2022-01-11
OMIA 001691-9940Recombination rateOvis ariessheep 2016-09-08
OMIA 000853-9940Reduced glutathione deficiency due to GCS deficiencyOvis ariessheep 2005-09-06
OMIA 002385-9940Reproductive seasonalityOvis ariessheep 2021-08-14
OMIA 001694-9940Resistance/susceptibility to lentivirusOvis ariessheep sTMEM154, LOC105603932 2012 2022-09-17
OMIA 002420-9940Sacral agenesisOvis ariessheep 2021-09-10
OMIA 001728-9940Sex determinationOvis ariessheep 2018-03-23
OMIA 000933-9940Spina bifidaOvis ariessheep 2011-02-11
OMIA 000944-9940Spongiform encephalopathy, susceptibility/resistance toOvis ariessheep PRNP 1990 2021-08-30
OMIA 000963-9940SyndactylyOvis ariessheep 2005-09-06
OMIA 000975-9940Tail, shortOvis ariessheep 2019-09-10
OMIA 000985-9940Teat / nipple, numberOvis ariessheep 2022-01-20
OMIA 001761-9940Telomere lengthOvis ariessheep 2021-04-23
OMIA 001013-9940TorticollisOvis ariessheep 2013-04-23
OMIA 002601-9940Type I interferon receptor deficiencyOvis ariessheep IFNAR2 2022 2022-11-24
OMIA 001033-9940UrolithiasisOvis ariessheep 2005-09-06
OMIA 001041-9940Ventricular septal defectOvis ariessheep 2005-09-06
OMIA 001046-9940Vertebral anomaliesOvis ariessheep 2021-09-10
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 001142-9940Wilms tumourOvis ariessheep 2005-09-06
OMIA 001071-9940Wilson diseaseOvis ariessheep 2005-09-06
OMIA 001079-9940Yellow fatOvis ariessheep BCO2 2010 2021-08-11