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114 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 | 2022-08-05 |
| 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: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 | 2013-08-05 | ||
| 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 |