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45 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: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 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