Mitochondria Phenome Knowledgebase

Phenotypic Feature Acylglycine-profile-abnormal finds 15 Gene-Feature associations that are associated with 15 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADM 201450 Acylglycine-profile-abnormal superylglycinuria; hexanoylglycinuria; phenylpropionylglycinuria; urinary excretion of glycine esters metabolic 2246856 2380628 7876853 11349232 11409868 11486912 12897989 15858970
ACADS 201470 Acylglycine-profile-abnormal butyrylglycinuria; isovalerylglycine metabolic 7776094 9932958
ACADSB 610006 Acylglycine-profile-abnormal elevated 2 methylbutyrylglycine; elevated isobutyrylglycine; 2 methylbutyrylglycinuria metabolic 10832746 11013134 12837870 15615815 16317551
ETFA 231680 Acylglycine-profile-abnormal acylglycinuria; isovalerylglycinuria metabolic 7912128
ETFB 231680 Acylglycine-profile-abnormal acylglycinuria; isovalerylglycinuria; isobutyrylglycinuria metabolic 7912128 9350306 12706375
ETFDH 231680 Acylglycine-profile-abnormal acylglycinuria; isovalerylglycinuria metabolic 7912128
ETHE1 602473 Acylglycine-profile-abnormal acylglycinuria; elevated isobutyrylglycine; elevated isovalerylglycine; elevated 2 methylbutyrylglycine; elevated N butyrylglycine metabolic 9475600 14732903
HADHA 609016 Acylglycine-profile-abnormal hexanoylglycine elevated; phenylpropionylglycine elevated metabolic 11855930
HLCS 253270 Acylglycine-profile-abnormal elevated 3 methylcrotonylglycine; tiglylglycine elevated metabolic 9686819 10234606 10653324 10770035 12633764
HMGCL 246450 Acylglycine-profile-abnormal elevated 3 methylcrotonylglycine metabolic 1886403 9463337
IVD 243500 Acylglycine-profile-abnormal elevated isovalerylglycine metabolic 2124776 8765634 8830183 15486829 16040844 16602101
MCCC1 210200 Acylglycine-profile-abnormal elevated 3 methylcrotonylglycine; methylcrotonyl glycinuria metabolic 2738779 10485305 11170888 11406611 11893004 15868465
MCCC2 210210 Acylglycine-profile-abnormal elevated 3 methylcrotonylglycine metabolic 11170888
PCCA 606054 Acylglycine-profile-abnormal propionylglycine elevated metabolic 9461363
PCCB 606054 Acylglycine-profile-abnormal propionylglycine elevated; 2 methylbutyrylglycine elevated; 3 methylcrotonylglycine elevated; tiglyglycine elevated metabolic 9461363 12409268

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