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129 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:002693-9940 | Achondroplasia, PRICKLE1-related | Ovis aries | sheep |
Gene not yet published |
2016 | 2024-01-23 |
| OMIA:001481-9940 | Achromatopsia-2, CNGA3-related | Ovis aries | sheep | CNGA3 | 2010 | 2024-06-18 |
| OMIA:002653-9940 | Alpha1-3 N-acetyl-D-galactosaminyltransferase deficiency | Ovis aries | sheep | 2023 | 2023-12-18 | |
| OMIA:000060-9940 | Argininaemia | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:001465-9940 | Arthrogryposis multiplex congenita, generic | Ovis aries | sheep | 2010-11-16 | ||
| OMIA:000069-9940 | Arthrogryposis, generic | Ovis aries | sheep | 2011-02-11 | ||
| OMIA:001723-9940 | Ataxia, familial episodic spinocerebellar | Ovis aries | sheep | FGF14 | 2017 | 2024-06-18 |
| OMIA:000117-9940 | Blood group system A | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000120-9940 | Blood group system B | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000121-9940 | Blood group system C | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000122-9940 | Blood group system D | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000125-9940 | Blood group system F30 | Ovis aries | sheep | 2020-08-20 | ||
| OMIA:000126-9940 | Blood group system F41 | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000129-9940 | Blood group system I | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000133-9940 | Blood group system M | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:000137-9940 | Blood group system R | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:001237-9940 | Blood group system X | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:001595-9940 | Brachygnathia, cardiomegaly and renal hypoplasia syndrome | Ovis aries | sheep | OBSL1 | 2020 | 2020-09-19 |
| OMIA:000168-9940 | Cataract, generic | Ovis aries | sheep | 2012-06-14 | ||
| OMIA:000175-9940 | Cerebellar abiotrophy | Ovis aries | sheep | 2022-10-27 | ||
| OMIA:001616-9940 | Chondrodysplasia, "llama syndrome" | Ovis aries | sheep | 2011-10-03 | ||
| OMIA:001703-9940 | Chondrodysplasia, FGFR3-related | Ovis aries | sheep | FGFR3 | 1998 | 2023-06-23 |
| OMIA:001400-9940 | Chondrodysplasia, SLC13A1-related | Ovis aries | sheep | SLC13A1 | 2012 | 2013-11-25 |
| OMIA:002342-9940 | Ciliary dyskinesia, primary, CCDC65-related | Ovis aries | sheep | CCDC65 | 2022 | 2022-01-29 |
| OMIA:000201-9940 | Coat colour, agouti | Ovis aries | sheep | ASIP | 2008 | 2021-08-25 |
| OMIA:002280-9940 | Coat colour, albinism, generic | Ovis aries | sheep | 2020-06-29 | ||
| OMIA:001249-9940 | Coat colour, brown, TYRP1-related | Ovis aries | sheep | TYRP1 | 2007 | 2024-06-18 |
| OMIA:000031-9940 | Coat colour, dilution, MLPH-related | Ovis aries | sheep | MLPH | 2020 | 2020-06-11 |
| OMIA:001199-9940 | Coat colour, extension | Ovis aries | sheep | MC1R | 1999 | 2024-09-06 |
| OMIA:000591-9940 | Coat colour, lethal grey/gray | Ovis aries | sheep | 2006-04-28 | ||
| OMIA:001794-9940 | Cystic fibrosis | Ovis aries | sheep | CFTR | 2017 | 2024-02-08 |
| OMIA:002413-9940 | Deafness, OTOF-related | Ovis aries | sheep | 2023-12-18 | ||
| OMIA:000328-9940 | Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related | Ovis aries | sheep | ADAMTS2 | 2012 | 2022-06-02 |
| OMIA:000302-9940 | Dwarfism, Ancon | Ovis aries | sheep | 2016-04-28 | ||
| OMIA:000327-9940 | Ehlers-Danlos syndrome, generic | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:000341-9940 | Epidermolysis bullosa, dystrophic | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:001948-9940 | Epidermolysis bullosa, junctionalis, ITGB4-related | Ovis aries | sheep | ITGB4 | 2015 | 2020-11-30 |
| OMIA:001678-9940 | Epidermolysis bullosa, junctionalis, LAMC2-related | Ovis aries | sheep | LAMC2 | 2011 | 2013-11-25 |
| OMIA:000348-9940 | Epitheliogenesis imperfecta | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:002407-9940 | Exercise intolerance, cytochrome B-related | Ovis aries | sheep | CYTB | 2019 | 2021-08-28 |
| OMIA:001885-9940 | Fecundity, B4GALNT2-related | Ovis aries | sheep | B4GALNT2 | 2013 | 2013-11-14 |
| OMIA:002306-9940 | Fecundity, BMP15-related | Ovis aries | sheep | BMP15 | 2000 | 2023-04-29 |
| OMIA:000383-9940 | Fecundity, BMPR1B-related | Ovis aries | sheep | BMPR1B | 2001 | 2024-04-23 |
| OMIA:001802-9940 | Fecundity, Davisdale, FecD | Ovis aries | sheep | 2023-04-29 | ||
| OMIA:002362-9940 | Fecundity, GDF9-related | Ovis aries | sheep | GDF9 | 2004 | 2023-11-27 |
| OMIA:001862-9940 | Fecundity, Wishart, FecW | Ovis aries | sheep | 2013-06-28 | ||
| OMIA:001338-9940 | Fecundity, Woodlands | Ovis aries | sheep | 2020-05-15 | ||
| OMIA:002687-9940 | Fleece variation (fine vs coarse) | Ovis aries | sheep | EDAR, KRT74 | 2023 | 2024-04-09 |
| OMIA:001528-9940 | Fleece variation (woolly vs hairy) | Ovis aries | sheep | IRF2BP2 | 2017 | 2023-11-05 |
| OMIA:000392-9940 | Fragile site | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:000402-9940 | Gangliosidosis, GM1 | Ovis aries | sheep | GLB1 | 2012 | 2024-06-18 |
| OMIA:001461-9940 | Gangliosidosis, GM2, type I (B variant) | Ovis aries | sheep | HEXA | 2010 | 2021-09-17 |
| OMIA:002621-9940 | Gaucher disease, type II | Ovis aries | sheep | GBA | 2011 | 2023-11-27 |
| OMIA:000419-9940 | Glycogen storage disease II | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:001139-9940 | Glycogen storage disease V | Ovis aries | sheep | PYGM | 1997 | 2024-06-18 |
| OMIA:000424-9940 | Goitre, familial | Ovis aries | sheep | 2012-05-21 | ||
| OMIA:000437-9940 | Haemophilia A | Ovis aries | sheep | F8 | 2010 | 2020-05-22 |
| OMIA:000439-9940 | Hair, long | Ovis aries | sheep | 2023-12-10 | ||
| OMIA:000443-9940 | Halo hair 1 | Ovis aries | sheep | 2012-05-21 | ||
| OMIA:002337-9940 | Haplotype with homozygous deficiency, LDHH1 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002346-9940 | Haplotype with homozygous deficiency, LDHH10 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002347-9940 | Haplotype with homozygous deficiency, LDHH11 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002338-9940 | Haplotype with homozygous deficiency, LDHH2 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002339-9940 | Haplotype with homozygous deficiency, LDHH3 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002340-9940 | Haplotype with homozygous deficiency, LDHH4 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002341-9940 | Haplotype with homozygous deficiency, LDHH5 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002343-9940 | Haplotype with homozygous deficiency, LDHH7 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002344-9940 | Haplotype with homozygous deficiency, LDHH8 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002345-9940 | Haplotype with homozygous deficiency, LDHH9 | Ovis aries | sheep | 2021-05-26 | ||
| OMIA:002862-9940 | Haplotype with homozygous deficiency, SLC33A1-related | Ovis aries | sheep | SLC33A1 | 2024 | 2024-08-01 |
| OMIA:000485-9940 | Huntington disease | Ovis aries | sheep | HTT | 2010 | 2024-04-08 |
| OMIA:000497-9940 | Hyperbilirubinaemia II | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:002755-9940 | Hyperbilirubinaemia, SLCO1B3-related | Ovis aries | sheep | SLCO1B3 | 2018 | 2023-08-19 |
| OMIA:001672-9940 | Hyperoxaluria, primary, type I (Oxalosis I) | Ovis aries | sheep | AGXT | 2020 | 2020-11-05 |
| OMIA:002162-9940 | Hypophosphatasia | Ovis aries | sheep | ALPL | 2018 | 2023-12-10 |
| OMIA:001542-9940 | Hypophosphatemic rickets, autosomal recessive, 1 | Ovis aries | sheep | DMP1 | 2011 | 2013-11-25 |
| OMIA:000540-9940 | Hypotrichosis, generic | Ovis aries | sheep | 2024-03-22 | ||
| OMIA:002229-9940 | Hypotrichosis, HR-related | Ovis aries | sheep | HR | 2003 | 2024-03-22 |
| OMIA:000578-9940 | Krabbe disease | Ovis aries | sheep | 2011-10-24 | ||
| OMIA:001867-9940 | Lissencephaly and cerebellar hypoplasia, RELN-related | Ovis aries | sheep | RELN | 2013 | 2024-10-14 |
| OMIA:000610-9940 | Lustrous wool | Ovis aries | sheep | 2024-11-04 | ||
| OMIA:000625-9940 | Mannosidosis, alpha | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:002176-9940 | Meckel-like hepatorenal fibrocystic dysplasia syndrome | Ovis aries | sheep | TMEM67 | 2017 | 2020-03-10 |
| OMIA:002563-9940 | Melatonin-enriched | Ovis aries | sheep | AANAT, ASMT | 2017 | 2023-12-18 |
| OMIA:000640-9940 | Menkes disease | Ovis aries | sheep | 2023-01-12 | ||
| OMIA:002849-9940 | Methylmalonic-coA mutase deficiency | Ovis aries | sheep | MMUT | 2024 | 2024-05-02 |
| OMIA:002371-9940 | Microcephaly, MFSD2A-related | Ovis aries | sheep | MFSD2A | 2023 | 2024-07-31 |
| OMIA:000649-9940 | Microphthalmia | Ovis aries | sheep | PITX3 | 2010 | 2024-06-18 |
| OMIA:001952-9940 | Microtia | Ovis aries | sheep | HMX1 | 2020 | 2024-02-28 |
| OMIA:000662-9940 | Motor neuron disease, lower | Ovis aries | sheep | AGTPBP1 | 2012 | 2012-03-21 |
| OMIA:002370-9940 | Motor neuron disease, TMCO6-related | Ovis aries | sheep | TMCO6 | 2023 | 2023-07-26 |
| OMIA:000679-9940 | Muscular dystrophy | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:002285-9940 | Muscular dystrophy, TNNT1-related | Ovis aries | sheep | TNNT1 | 2020 | 2020-08-31 |
| OMIA:000683-9940 | Muscular hypertrophy (double muscling) | Ovis aries | sheep | MSTN | 2006 | 2023-12-12 |
| OMIA:001354-9940 | Muscular hypertrophy (double muscling), Callipyge | Ovis aries | sheep | DLK1 | 2002 | 2024-06-18 |
| OMIA:001355-9940 | Muscular hypertrophy (double muscling), Carwell | Ovis aries | sheep | 2013-11-18 | ||
| OMIA:000698-9940 | Myotonia | Ovis aries | sheep | CLCN1 | 2015 | 2015-03-08 |
| OMIA:002105-9940 | Neuroaxonal dystrophy, PLA2G6-related | Ovis aries | sheep | PLA2G6 | 2020 | 2020-11-11 |
| OMIA:001504-9940 | Neuronal ceroid lipofuscinosis, 1 | Ovis aries | sheep | PPT1 | 2019 | 2024-01-18 |
| OMIA:001505-9940 | Neuronal ceroid lipofuscinosis, 10 | Ovis aries | sheep | CTSD | 2000 | 2017-12-12 |
| OMIA:001482-9940 | Neuronal ceroid lipofuscinosis, 5 | Ovis aries | sheep | CLN5 | 2008 | 2013-08-20 |
| OMIA:001443-9940 | Neuronal ceroid lipofuscinosis, 6 | Ovis aries | sheep | CLN6 | 2006 | 2013-08-20 |
| OMIA:000181-9940 | Neuronal Ceroid Lipofuscinosis, generic | Ovis aries | sheep | 2024-02-08 | ||
| OMIA:001236-9940 | Nucleoside transport defect | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:000754-9940 | Osteogenesis imperfecta, generic | Ovis aries | sheep | 2011-10-03 | ||
| OMIA:002227-9940 | Otocephaly, OTX2-related | Ovis aries | sheep | OTX2 | 2020 | 2020-01-25 |
| OMIA:002552-9940 | Pancreatic agenesis, PDX1-related | Ovis aries | sheep | PDX1 | 2017 | 2023-12-18 |
| OMIA:000483-9940 | Polled/Horns | Ovis aries | sheep | RXFP2 | 2011 | 2023-10-16 |
| OMIA:000806-9940 | Polyceraty | Ovis aries | sheep | HOXD1 | 2021 | 2023-11-09 |
| OMIA:000807-9940 | Polycystic kidney disease | Ovis aries | sheep | 2006-05-06 | ||
| OMIA:001176-9940 | Porphyria cutanea tarda | Ovis aries | sheep | UROD | 2005 | 2017-12-12 |
| OMIA:000818-9940 | Potassium transport in red blood cells | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:001562-9940 | Pulmonary hypoplasia with anasarca, ADAMTS3-related | Ovis aries | sheep | ADAMTS3 | 2024 | 2024-10-17 |
| OMIA:001234-9940 | Reduced glutathione deficiency due to amino-acid transport defect | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:000853-9940 | Reduced glutathione deficiency due to GCS deficiency | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:001235-9940 | Reduced glutathione deficiency, unclassified | Ovis aries | sheep | 2005-09-06 | ||
| OMIA:000864-9940 | Response to noradrenaline, lack of non-shivering thermogenesis | Ovis aries | sheep | 2022-10-21 | ||
| OMIA:000914-9940 | Silky wool | Ovis aries | sheep | 2011-10-26 | ||
| OMIA:000933-9940 | Spina bifida | Ovis aries | sheep | 2011-02-11 | ||
| OMIA:001705-9940 | Sterility, Irish Cambridge | Ovis aries | sheep | 2012-07-08 | ||
| OMIA:002721-9940 | Tail, length, HOXB13-related | Ovis aries | sheep | HOXB13 | 2023 | 2024-06-18 |
| OMIA:000975-9940 | Tail, short | Ovis aries | sheep | TBXT | 2018 | 2023-06-15 |
| OMIA:000977-9940 | Taillessness | Ovis aries | sheep | 2011-10-04 | ||
| OMIA:002601-9940 | Type I interferon receptor deficiency | Ovis aries | sheep | IFNAR2 | 2022 | 2023-12-18 |
| OMIA:001054-9940 | Vitamin-K-dependent blood coagulation factors deficiency | Ovis aries | sheep | 2006-08-22 | ||
| OMIA:001765-9940 | Waardenburg syndrome, type 4A | Ovis aries | sheep | EDNRB | 2012 | 2018-01-29 |
| OMIA:001598-9940 | Wool/hair shedding | Ovis aries | sheep | 2013-07-12 | ||
| OMIA:001230-9940 | XY sex reversal, SRY-related | Ovis aries | sheep | SRY | 2023 | 2023-10-01 |
| OMIA:001079-9940 | Yellow fat | Ovis aries | sheep | BCO2 | 2010 | 2024-02-27 |