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115 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:000396-9615 Fucosidosis, alpha Canis lupus familiaris dog FUCA1 1996 2012-09-03
OMIA:000396-9685 Fucosidosis, alpha Felis catus domestic cat 2005-09-06
OMIA:000400-9615 Galactosialidosis Canis lupus familiaris dog 2005-09-06
OMIA:000401-9913 Gangliosidosis Bos taurus taurine cattle 2005-09-06
OMIA:000401-9615 Gangliosidosis Canis lupus familiaris dog 2005-09-06
OMIA:000401-8790 Gangliosidosis Dromaius novaehollandiae emu 2020-05-15
OMIA:000401-9685 Gangliosidosis Felis catus domestic cat 2005-09-06
OMIA:000401-9823 Gangliosidosis Sus scrofa pig 2005-09-06
OMIA:000402-9913 Gangliosidosis, GM1 Bos taurus taurine cattle 2005-09-06
OMIA:000402-9615 Gangliosidosis, GM1 Canis lupus familiaris dog GLB1 2000 2024-06-15
OMIA:000402-8790 Gangliosidosis, GM1 Dromaius novaehollandiae emu 2005-09-06
OMIA:000402-9685 Gangliosidosis, GM1 Felis catus domestic cat GLB1 2008 2023-06-04
OMIA:000402-9940 Gangliosidosis, GM1 Ovis aries sheep GLB1 2012 2018-02-08
OMIA:000403-9615 Gangliosidosis, GM2, generic Canis lupus familiaris dog 2012-07-08
OMIA:000403-9685 Gangliosidosis, GM2, generic Felis catus domestic cat 2008-09-20
OMIA:000403-9823 Gangliosidosis, GM2, generic Sus scrofa pig 2005-09-06
OMIA:001427-9615 Gangliosidosis, GM2, GM2A deficiency Canis lupus familiaris dog 2006-06-27
OMIA:001427-9685 Gangliosidosis, GM2, GM2A deficiency Felis catus domestic cat GM2A 2005 2013-05-29
OMIA:001461-9615 Gangliosidosis, GM2, type I (B variant) Canis lupus familiaris dog HEXA 2013 2014-02-26
OMIA:001461-9888 Gangliosidosis, GM2, type I (B variant) Muntiacus muntjak muntjak 2008-09-20
OMIA:001461-9986 Gangliosidosis, GM2, type I (B variant) Oryctolagus cuniculus rabbit 2013-05-03
OMIA:001461-9940 Gangliosidosis, GM2, type I (B variant) Ovis aries sheep HEXA 2010 2021-09-17
OMIA:001461-9217 Gangliosidosis, GM2, type I (B variant) Phoenicopterus ruber American flamingo HEXA 2008 2020-05-15
OMIA:001461-9823 Gangliosidosis, GM2, type I (B variant) Sus scrofa pig HEXA 2021 2021-06-16
OMIA:001462-59523 Gangliosidosis, GM2, type II (Sandhoff or variant 0) Antidorcas marsupialis springbok 2014-09-22
OMIA:001462-9615 Gangliosidosis, GM2, type II (Sandhoff or variant 0) Canis lupus familiaris dog HEXB 2012 2022-05-24
OMIA:001462-9685 Gangliosidosis, GM2, type II (Sandhoff or variant 0) Felis catus domestic cat HEXB 1994 2022-02-23
OMIA:000405-9615 Gaucher disease, generic Canis lupus familiaris dog 2005-09-06
OMIA:000405-9940 Gaucher disease, generic Ovis aries sheep 2024-02-09
OMIA:000405-9823 Gaucher disease, generic Sus scrofa pig 2017-10-17
OMIA:002621-9940 Gaucher disease, type II Ovis aries sheep GBA 2011 2023-11-27
OMIA:000419-9915 Glycogen storage disease II Bos indicus indicine cattle (zebu) 2000 2024-02-09
OMIA:000419-9913 Glycogen storage disease II Bos taurus taurine cattle GAA 2000 2021-11-24
OMIA:000419-9615 Glycogen storage disease II Canis lupus familiaris dog GAA 2013 2022-06-03
OMIA:000419-93934 Glycogen storage disease II Coturnix japonica Japanese quail 2005-09-06
OMIA:000419-9685 Glycogen storage disease II Felis catus domestic cat GAA 2023 2023-04-14
OMIA:000419-9940 Glycogen storage disease II Ovis aries sheep 2005-09-06
OMIA:000578-9615 Krabbe disease Canis lupus familiaris dog GALC 1996 2023-08-19
OMIA:000578-9685 Krabbe disease Felis catus domestic cat 2005-09-06
OMIA:000578-9544 Krabbe disease Macaca mulatta Rhesus monkey GALC 1997 2018-03-12
OMIA:000578-9940 Krabbe disease Ovis aries sheep 2011-10-24
OMIA:000616-9913 Lysosomal storage disease Bos taurus taurine cattle 2013-04-16
OMIA:000616-9615 Lysosomal storage disease Canis lupus familiaris dog 2005-09-06
OMIA:000616-8790 Lysosomal storage disease Dromaius novaehollandiae emu 2005-09-06
OMIA:000616-9685 Lysosomal storage disease Felis catus domestic cat 2005-09-06
OMIA:000616-9322 Lysosomal storage disease Macropus sp. kangaroo 2005-09-06
OMIA:001503-9615 Lysosomal storage disease, ARSG related Canis lupus familiaris dog ARSG 2010 2021-01-08
OMIA:002591-9615 Lysosomal storage disease, CNP-related Canis lupus familiaris dog CNP 2022 2024-04-08
OMIA:000625-9913 Mannosidosis, alpha Bos taurus taurine cattle MAN2B1 1997 2023-09-25
OMIA:000625-9615 Mannosidosis, alpha Canis lupus familiaris dog MAN2B1 2023 2023-10-02
OMIA:000625-9925 Mannosidosis, alpha Capra hircus goat 2023-02-03
OMIA:000625-10141 Mannosidosis, alpha Cavia porcellus domestic guinea pig Man2b1 2002 2012-03-12
OMIA:000625-9685 Mannosidosis, alpha Felis catus domestic cat MAN2B1 1997 2022-02-23
OMIA:000625-9940 Mannosidosis, alpha Ovis aries sheep 2005-09-06
OMIA:000626-59523 Mannosidosis, beta Antidorcas marsupialis springbok 2010-10-20
OMIA:000626-9913 Mannosidosis, beta Bos taurus taurine cattle MANBA 1999 2023-10-08
OMIA:000626-9615 Mannosidosis, beta Canis lupus familiaris dog MANBA 2019 2019-09-05
OMIA:000626-9925 Mannosidosis, beta Capra hircus goat MANBA 1996 2012-09-03
OMIA:000626-9685 Mannosidosis, beta Felis catus domestic cat MANBA 2023 2023-11-03
OMIA:001248-9685 Mucolipidosis II Felis catus domestic cat GNPTAB 2018 2019-03-02
OMIA:000664-9913 Mucopolysaccharidosis I Bos taurus taurine cattle 2005-09-06
OMIA:000664-9615 Mucopolysaccharidosis I Canis lupus familiaris dog IDUA 1992 2023-02-02
OMIA:000664-9685 Mucopolysaccharidosis I Felis catus domestic cat IDUA 1999 2012-09-15
OMIA:001317-9615 Mucopolysaccharidosis II Canis lupus familiaris dog 2013-08-05
OMIA:001317-176043 Mucopolysaccharidosis II Nestor meridionalis Kaka 2021-08-25
OMIA:001309-9615 Mucopolysaccharidosis IIIA Canis lupus familiaris dog SGSH 2000 2018-01-23
OMIA:001342-9913 Mucopolysaccharidosis IIIB Bos taurus taurine cattle NAGLU 2007 2024-03-26
OMIA:001342-9615 Mucopolysaccharidosis IIIB Canis lupus familiaris dog NAGLU 2020 2020-12-11
OMIA:001342-8790 Mucopolysaccharidosis IIIB Dromaius novaehollandiae emu NAGLU 2001 2018-08-13
OMIA:001342-9823 Mucopolysaccharidosis IIIB Sus scrofa pig 2023-12-18
OMIA:000665-9925 Mucopolysaccharidosis IIID Capra hircus goat GNS 1995 2012-08-31
OMIA:000666-9615 Mucopolysaccharidosis VI Canis lupus familiaris dog ARSB 2004 2020-10-27
OMIA:000666-9685 Mucopolysaccharidosis VI Felis catus domestic cat ARSB 1996 2022-09-12
OMIA:000667-9615 Mucopolysaccharidosis VII Canis lupus familiaris dog GUSB 1998 2021-08-30
OMIA:000667-9685 Mucopolysaccharidosis VII Felis catus domestic cat GUSB 1999 2015-12-31
OMIA:001504-9615 Neuronal ceroid lipofuscinosis, 1 Canis lupus familiaris dog PPT1 2010 2018-07-12
OMIA:001504-9940 Neuronal ceroid lipofuscinosis, 1 Ovis aries sheep PPT1 2019 2024-01-18
OMIA:001505-9615 Neuronal ceroid lipofuscinosis, 10 Canis lupus familiaris dog CTSD 2006 2013-05-28
OMIA:001505-9940 Neuronal ceroid lipofuscinosis, 10 Ovis aries sheep CTSD 2000 2017-12-12
OMIA:001552-9615 Neuronal ceroid lipofuscinosis, 12 Canis lupus familiaris dog ATP13A2 2011 2022-02-04
OMIA:001472-9615 Neuronal ceroid lipofuscinosis, 2 Canis lupus familiaris dog TPP1 2006 2023-01-23
OMIA:001472-9541 Neuronal ceroid lipofuscinosis, 2 Macaca fascicularis crab-eating macaque TPP1 2023 2023-03-17
OMIA:001472-9823 Neuronal ceroid lipofuscinosis, 2 Sus scrofa pig TPP1 2022 2023-12-12
OMIA:002432-9913 Neuronal ceroid lipofuscinosis, 3 Bos taurus taurine cattle CLN3 2024 2024-03-28
OMIA:002432-9823 Neuronal ceroid lipofuscinosis, 3 Sus scrofa pig 2023-12-18
OMIA:001482-9913 Neuronal ceroid lipofuscinosis, 5 Bos taurus taurine cattle CLN5 2006 2015-10-01
OMIA:001482-9615 Neuronal ceroid lipofuscinosis, 5 Canis lupus familiaris dog CLN5 2005 2023-11-13
OMIA:001482-9940 Neuronal ceroid lipofuscinosis, 5 Ovis aries sheep CLN5 2008 2013-08-20
OMIA:001443-9615 Neuronal ceroid lipofuscinosis, 6 Canis lupus familiaris dog CLN6 2011 2013-05-28
OMIA:001443-9685 Neuronal ceroid lipofuscinosis, 6 Felis catus domestic cat CLN6 2020 2021-09-07
OMIA:001443-9940 Neuronal ceroid lipofuscinosis, 6 Ovis aries sheep CLN6 2006 2013-08-20
OMIA:001962-9615 Neuronal ceroid lipofuscinosis, 7 Canis lupus familiaris dog MFSD8 2015 2023-01-10
OMIA:001962-9685 Neuronal ceroid lipofuscinosis, 7 Felis catus domestic cat MFSD8 2019 2020-01-28
OMIA:001962-9542 Neuronal ceroid lipofuscinosis, 7 Macaca fuscata Japanese macaque CLN7 2018 2019-02-15
OMIA:001962-9986 Neuronal ceroid lipofuscinosis, 7 Oryctolagus cuniculus rabbit MFSD8 2024 2024-05-09
OMIA:001506-9615 Neuronal ceroid lipofuscinosis, 8 Canis lupus familiaris dog CLN8 2005 2023-06-11
OMIA:000181-60468 Neuronal Ceroid Lipofuscinosis, generic Agapornis roseicollis peach-faced lovebird 2012-07-01
OMIA:000181-8839 Neuronal Ceroid Lipofuscinosis, generic Anas platyrhynchos Mallard 2012-07-01
OMIA:000181-9913 Neuronal Ceroid Lipofuscinosis, generic Bos taurus taurine cattle 2024-02-08
OMIA:000181-9615 Neuronal Ceroid Lipofuscinosis, generic Canis lupus familiaris dog 2013-06-18
OMIA:000181-9925 Neuronal Ceroid Lipofuscinosis, generic Capra hircus goat 2013-08-20
OMIA:000181-9796 Neuronal Ceroid Lipofuscinosis, generic Equus caballus horse 2024-06-16
OMIA:000181-9685 Neuronal Ceroid Lipofuscinosis, generic Felis catus domestic cat 2013-08-05
OMIA:000181-9541 Neuronal Ceroid Lipofuscinosis, generic Macaca fascicularis crab-eating macaque 2013-08-20
OMIA:000181-9669 Neuronal Ceroid Lipofuscinosis, generic Mustela putorius furo domestic ferret 2013-08-20
OMIA:000181-9940 Neuronal Ceroid Lipofuscinosis, generic Ovis aries sheep 2024-02-08
OMIA:000181-9823 Neuronal Ceroid Lipofuscinosis, generic Sus scrofa pig 2009-12-01
OMIA:001795-9913 Niemann-Pick disease, type A Bos taurus taurine cattle 2013-05-03
OMIA:001795-9615 Niemann-Pick disease, type A Canis lupus familiaris dog 2013-05-03
OMIA:001795-9685 Niemann-Pick disease, type A Felis catus domestic cat SMPD1 2020 2020-05-14
OMIA:001795-9654 Niemann-Pick disease, type A Procyon lotor raccoon 2013-05-03
OMIA:000725-9913 Niemann-Pick disease, type C1 Bos taurus taurine cattle NPC1 2020 2020-09-26
OMIA:000725-9615 Niemann-Pick disease, type C1 Canis lupus familiaris dog 2011-03-17
OMIA:000725-9685 Niemann-Pick disease, type C1 Felis catus domestic cat NPC1 2003 2023-06-04
OMIA:002065-9685 Niemann-Pick disease, type C2 Felis catus domestic cat NPC2 2014 2023-05-27