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44 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 | 2022-01-14 |
| OMIA:001723-9940 | Ataxia, familial episodic spinocerebellar | Ovis aries | sheep | FGF14 | 2017 | 2021-09-10 |
| OMIA:001595-9940 | Brachygnathia, cardiomegaly and renal hypoplasia syndrome | Ovis aries | sheep | OBSL1 | 2020 | 2020-09-19 |
| 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:001794-9940 | Cystic fibrosis | Ovis aries | sheep | CFTR | 2017 | 2024-02-08 |
| OMIA:000328-9940 | Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related | Ovis aries | sheep | ADAMTS2 | 2012 | 2022-06-02 |
| 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:002407-9940 | Exercise intolerance, cytochrome B-related | Ovis aries | sheep | CYTB | 2019 | 2021-08-28 |
| OMIA:000402-9940 | Gangliosidosis, GM1 | Ovis aries | sheep | GLB1 | 2012 | 2018-02-08 |
| 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:001139-9940 | Glycogen storage disease V | Ovis aries | sheep | PYGM | 1997 | 2012-09-03 |
| OMIA:000437-9940 | Haemophilia A | Ovis aries | sheep | F8 | 2010 | 2020-05-22 |
| OMIA:000485-9940 | Huntington disease | Ovis aries | sheep | HTT | 2010 | 2024-04-08 |
| 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:002229-9940 | Hypotrichosis, HR-related | Ovis aries | sheep | HR | 2003 | 2024-03-22 |
| OMIA:001867-9940 | Lissencephaly and cerebellar hypoplasia, RELN-related | Ovis aries | sheep | RELN | 2013 | 2013-11-24 |
| OMIA:002176-9940 | Meckel-like hepatorenal fibrocystic dysplasia syndrome | Ovis aries | sheep | TMEM67 | 2017 | 2020-03-10 |
| OMIA:002371-9940 | Microcephaly, MFSD2A-related | Ovis aries | sheep | MFSD2A | 2023 | 2023-11-05 |
| OMIA:000649-9940 | Microphthalmia | Ovis aries | sheep | PITX3 | 2010 | 2019-03-15 |
| 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:002285-9940 | Muscular dystrophy, TNNT1-related | Ovis aries | sheep | TNNT1 | 2020 | 2020-08-31 |
| 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: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:001176-9940 | Porphyria cutanea tarda | Ovis aries | sheep | UROD | 2005 | 2017-12-12 |
| OMIA:000975-9940 | Tail, short | Ovis aries | sheep | TBXT | 2018 | 2023-06-15 |
| OMIA:001765-9940 | Waardenburg syndrome, type 4A | Ovis aries | sheep | EDNRB | 2012 | 2018-01-29 |
| 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 |