Search Results

Advanced search

43 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 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: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 2020-01-27
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