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34 phene records found

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OMIA ID Phene Species Scientific Name Species Common NameGene Year Key Mutation First ReportedDate Last Modified
OMIA 000396-9615Fucosidosis, alphaCanis lupus familiarisdog FUCA1 1996
OMIA 000400-9615GalactosialidosisCanis lupus familiarisdog
OMIA 000401-9615GangliosidosisCanis lupus familiarisdog
OMIA 000402-9615Gangliosidosis, GM1Canis lupus familiarisdog GLB1 2000
OMIA 000403-9615Gangliosidosis, GM2, genericCanis lupus familiarisdog
OMIA 001427-9615Gangliosidosis, GM2, GM2A deficiencyCanis lupus familiarisdog
OMIA 001461-9615Gangliosidosis, GM2, type I (B variant)Canis lupus familiarisdog HEXA 2013
OMIA 001462-9615Gangliosidosis, GM2, type II (Sandhoff or variant 0)Canis lupus familiarisdog HEXB 2012
OMIA 000405-9615Gaucher disease, type ICanis lupus familiarisdog
OMIA 000418-9615Glycogen storage disease IaCanis lupus familiarisdog G6PC 1997
OMIA 000419-9615Glycogen storage disease IICanis lupus familiarisdog GAA 2013
OMIA 001577-9615Glycogen storage disease IIIaCanis lupus familiarisdog AGL 2007
OMIA 000421-9615Glycogen storage disease VIICanis lupus familiarisdog PFKM 1996
OMIA 000578-9615Krabbe diseaseCanis lupus familiarisdog GALC 1996
OMIA 000616-9615Lysosomal storage diseaseCanis lupus familiarisdog
OMIA 000626-9615Mannosidosis, betaCanis lupus familiarisdog MANBA 2019
OMIA 000664-9615Mucopolysaccharidosis ICanis lupus familiarisdog IDUA 1992
OMIA 001317-9615Mucopolysaccharidosis IICanis lupus familiarisdog
OMIA 001309-9615Mucopolysaccharidosis IIIACanis lupus familiarisdog SGSH 2000
OMIA 000666-9615Mucopolysaccharidosis VICanis lupus familiarisdog ARSB 2004
OMIA 000667-9615Mucopolysaccharidosis VIICanis lupus familiarisdog GUSB 1998
OMIA 001504-9615Neuronal ceroid lipofuscinosis, 1Canis lupus familiarisdog PPT1 2010
OMIA 001505-9615Neuronal ceroid lipofuscinosis, 10Canis lupus familiarisdog CTSD 2006
OMIA 001552-9615Neuronal ceroid lipofuscinosis, 12Canis lupus familiarisdog ATP13A2 2011
OMIA 001472-9615Neuronal ceroid lipofuscinosis, 2Canis lupus familiarisdog TPP1 2006
OMIA 001503-9615Neuronal ceroid lipofuscinosis, 4ACanis lupus familiarisdog ARSG 2010
OMIA 001482-9615Neuronal ceroid lipofuscinosis, 5Canis lupus familiarisdog CLN5 2005
OMIA 001443-9615Neuronal ceroid lipofuscinosis, 6Canis lupus familiarisdog CLN6 2011
OMIA 001962-9615Neuronal ceroid lipofuscinosis, 7Canis lupus familiarisdog MFSD8 2015
OMIA 001506-9615Neuronal ceroid lipofuscinosis, 8Canis lupus familiarisdog CLN8 2005
OMIA 000181-9615Neuronal Ceroid Lipofuscinosis, genericCanis lupus familiarisdog
OMIA 000724-9615Niemann-Pick diseaseCanis lupus familiarisdog
OMIA 001795-9615Niemann-Pick disease, type ACanis lupus familiarisdog
OMIA 000725-9615Niemann-Pick disease, type C1Canis lupus familiarisdog