Mitochondria Phenome Knowledgebase

Phenotypic Feature Aminoaciduria finds 35 Gene-Feature associations that are associated with 35 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Aminoaciduria lysinuria; argininuria; cystinuria; ornithinuria; saccharopinuria metabolic 5796356 6015890 10775527
AASS 268700 Aminoaciduria lysinuria; citrullinuria; histidinuria; saccharopinuria metabolic 5018656 5690339
ABAT 137150 Aminoaciduria elevated histidine; elevated alanine metabolic 10407778
ACADS 201470 Aminoaciduria aspartate elevated; threonine elevated; glutamine elevated; proline elevated; glycine elevated; alanine elevated; histidine elevated metabolic 3335634 3571488
ALDH4A1 239510 Aminoaciduria glycinuria; prolinuria; hydroxyprolinuria metabolic 9700195
ALDH5A1 271980 Aminoaciduria glycinuria metabolic 12743223
ALDH6A1 603178 Aminoaciduria alanine elevated; beta alanine elevated; hypermethioninaemia metabolic 3939535 10947204
AMT 605899 Aminoaciduria glycinuria metabolic 8005589
ATP7B 277900 Aminoaciduria generalized; De Toni Fanconi Debre syndrome metabolic 11060541
ATPAF2 604273 Aminoaciduria increased urinary amino acids metabolic 14757859
BCS1L 124000 Aminoaciduria De Toni Fanconi Debre syndrome metabolic 11528392 12910490
BCS1L 603358 Aminoaciduria nonspecific aminoaciduria metabolic 7577396 9482441 12027811 12215968
COX10 220110 Aminoaciduria increased urinary amino acids; proximal tubulopathy related metabolic 2834526 10767350
CYP27B1 264700 Aminoaciduria generalized metabolic 9486994
DGUOK 251880 Aminoaciduria generalized amino aciduria metabolic 15883261
DLD 248600 Aminoaciduria generalized metabolic 9934985 10448086 12925875
DMGDH 605850 Aminoaciduria dimethylglycinuria; N N dimethylglycine elevated; DMG elevated; MRS findings metabolic 10102904 11231903
ETFDH 231680 Aminoaciduria generalized; glutaricaciduria metabolic 12815589
FH 606812 Aminoaciduria generalized metabolic 8200987
GCDH 231670 Aminoaciduria generalized; rare finding metabolic 16377226
GCSH 605899 Aminoaciduria glycinuria metabolic 1671321
GLDC 605899 Aminoaciduria glycinuria metabolic 1634607 15824356
MTRR 236270 Aminoaciduria homocystinuria metabolic 2860337 6700644 10484769 12555939
NDUFS8 252010 Aminoaciduria alanine elevated metabolic 15159508
OAT 258870 Aminoaciduria ornithuria; urinary ornithine; urinary lysine; urinary arginine; urinary cystine; overflow ornithinuria; lysinuria; cystinuria metabolic 7958031 8295414 8701494 8982944 11831916 15159649
OTC 311250 Aminoaciduria mild generalized aminoaciduria metabolic 3508674
PC 266150 Aminoaciduria lactic aciduria; cystinuria; hyperaminoaciduria metabolic 6422151 15781190
PCCA 606054 Aminoaciduria glycinuria; hyperglycinuria; hyperlysinuria metabolic 7957390 13693094
PCCB 606054 Aminoaciduria glycinuria; hyperglycinuria; hyperlysinuria metabolic 7957390
PDHA1 312170 Aminoaciduria lactic aciduria; elevated alanine metabolic 9686362 10486093
PRODH 239500 Aminoaciduria glycinuria; prolinuria metabolic 12217952 12525555
SLC19A2 249270 Aminoaciduria valine elevated; lysine elevated metabolic 5767338
SLC25A13 603471 Aminoaciduria homocitrullinuria metabolic 12512993
SUOX 272300 Aminoaciduria S sulfocysteine elevated metabolic 11825068
SURF1 220110 Aminoaciduria alanine metabolic 16222681
TAT 276600 Aminoaciduria tyrosine metabolites metabolic 1357662 2456982 16574453
UQCRB 124000 Aminoaciduria alanine elevated metabolic 12709789

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