Mitochondria Phenome Knowledgebase

Phenotypic Feature Aminoacid-levels-abnormal finds 47 Gene-Feature associations that are associated with 47 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Aminoacid-levels-abnormal elevated lysine; elevated arginine; CSF; blood; hyperlysinemia metabolic 5796356 6015890 10775527
ACADM 201450 Aminoacid-levels-abnormal elevated alanine metabolic 11346377
ACAT1 203750 Aminoacid-levels-abnormal elevated glycine; hyperglycinemia; valine elevated; leucine elevated; isoleucine elevated metabolic 8930414 11161836
ALDH18A1 138250 Aminoacid-levels-abnormal citrulline decreased; ornithine decreased; arginine decreased; proline decreased; hypoornithinemia; hypocitrullinemia; hypoargininemia; hypoprolinemia metabolic 11092761 15517380
ALDH4A1 239510 Aminoacid-levels-abnormal elevated proline; elevated hydroxyproline; elevated glycine; elevated ornithine; hyperglycinemia; hyperprolinemia metabolic 837521 956388 2624476 4825691 9700195 15214748
ALDH5A1 271980 Aminoacid-levels-abnormal hyperglycinemia metabolic 12743223
AMT 605899 Aminoacid-levels-abnormal elevated glycine; hyperglycinemia; CSF plasma glycine ratio abnormal metabolic 8005589 9621520 11139253 12948742 16450403
ATPAF2 604273 Aminoacid-levels-abnormal elevated alanine metabolic 14757859
BCKDHA 248600 Aminoacid-levels-abnormal elevated leucine; elevated isoleucine; elevated valine; elevated alloisoleucine; leucinosis; leucine alanine ratio abnormal metabolic 7707687 7883996 8161368 10694918 11825067 12042535 12118532 14517957 14567968 14742428 16601891 16786533
BCKDHB 248600 Aminoacid-levels-abnormal elevated leucine; elevated isoleucine; elevated valine; elevated alloisoleucine metabolic 2022752 7707687 8161368 8312380 11448970 11509994 14517957 14567968 14742428 16786533
BCS1L 124000 Aminoacid-levels-abnormal elevated tyrosine; elevated alanine; hypoaminoacidemia; De Toni Fanconi Debre syndrome metabolic 11528392 12910490
BCS1L 603358 Aminoacid-levels-abnormal hypoaminoacidemia; De Toni Fanconi Debre syndrome; alanine elevated metabolic 7577396 9482441
COX10 220110 Aminoacid-levels-abnormal elevated alanine; elevated proline; elevated glycine; hypoaminoacidemia metabolic 12928484
CPS1 237300 Aminoacid-levels-abnormal plasma; decreased citrulline; decreased arginine; elevated glutamine; elevated glutamic acid; elevated alanine; elevated asparagine metabolic 6465866 8273985 9711878 11301219 11474210 11536261 12655559 12955727 15617192
DBT 248600 Aminoacid-levels-abnormal elevated leucine; elevated isoleucine; elevated valine; elevated alloisoleucine; increased plasma levels of branched chain amino acids metabolic 1847055 2010537 9239422 12118532 14517957 14567968 14741190 14742428 16786533
DLD 248600 Aminoacid-levels-abnormal elevated alanine; elevated leucine; elevated isoleucine; elevated valine; elevated glycine; elevated threonine; elevated alloisoleucine; elevated methionine; branched chain amino acids abnormal metabolic 3769994 8506365 8652022 8968745 9540846 9934985 11687750 12925875
DMGDH 605850 Aminoacid-levels-abnormal dimethylglycinemia; nonprotein aminoacid metabolic 10102904 11231903
FH 606812 Aminoacid-levels-abnormal aspartate decreased; asparagine decreased; elevated alanine; elevated valine; elevated glycine; elevated threonine; elevated serine; elevated phosphoethanolamine metabolic 8200987
GCSH 605899 Aminoacid-levels-abnormal elevated glycine; CSF plasma glycine ratio abnormal metabolic 1671321
GLDC 605899 Aminoacid-levels-abnormal elevated glycine; hyperglycinemia; CSF plasma glycine ratio abnormal metabolic 1634607 10798358 15236413 15824356 15851735 15864413 16450403
GLUD1 606762 Aminoacid-levels-abnormal elevated glutamine; plasma glutamine elevated; valine decreased; leucine decreased; isoleucine decreased; alanine decreased metabolic 8769351 9108870 10636977 11518822 16151898
HADHA 609016 Aminoacid-levels-abnormal hypertyrosinemia; tyrosine elevated; branched chain amino acids decreased metabolic 9003853
HLCS 253270 Aminoacid-levels-abnormal elevated leucine; elevated alanine metabolic 11735028 12124727
HMGCL 246450 Aminoacid-levels-abnormal glutamic acid elevated; alanine elevated; serine elevated; glycine elevated metabolic 1886403 9463337
IVD 243500 Aminoacid-levels-abnormal leucine decreased; isoleucine decreased; ornithine decreased; glycine elevated metabolic 8765634 10191353
MMAA 251100 Aminoacid-levels-abnormal elevated glycine metabolic 6132336
MMAB 251110 Aminoacid-levels-abnormal elevated glycine metabolic 6132336
MTRR 236270 Aminoacid-levels-abnormal elevated homocystine; hyperhomocysteinemia; hypoaminoacidemia; hypomethioninemia; methionine decreased; normal serum folate and B12 metabolic 9501215 10484769 12555939 12971424
MUT 251000 Aminoacid-levels-abnormal elevated glycine metabolic 11350191 16451139
NAGS 237310 Aminoacid-levels-abnormal elevated glutamine; elevated alanine; elevated glutamate; decreased citrulline; decreased arginine; elevated glutamic acid metabolic 7623444 9870213 9877039 12447942 12594532 12754705 15480384 15714518 16126063
NDUFS4 252010 Aminoacid-levels-abnormal elevated alanine; blood; plasma metabolic 10944442 14765537
NDUFS8 252010 Aminoacid-levels-abnormal alanine elevated metabolic 15159508
OAT 258870 Aminoacid-levels-abnormal hyperornithemia; elevated ornithine; elevated glutamine; ornithine decreased; citrulline decreased; alanine elevated; lysine decreased; hypolysinemia metabolic 711502 2220818 2793865 4068589 4088625 6786998 7887415 7958031 8295414 8701494 8982944 9893857 10354199 10430418 10604138 11297489 11831916 12221166 15159649 15750329 16151897
OTC 311250 Aminoacid-levels-abnormal decreased citrulline; elevated glutamine; elevated asparagine; decreased arginine; elevated alanine; elevated methionine; elevated glycine; elevated lysine metabolic 2347583 8732901 8829665 12083811 12647200 15174800 15243986 15578616
PC 266150 Aminoacid-levels-abnormal elevated alanine; elevated lysine; elevated citrulline; elevated proline; decreased glutamine; decreased glutamate; hypercitrullinemia; citrullinemia; hyperlysinemia; hyperalanaemia metabolic 6422150 6424438 7503391 7720232 10323732 12112657 15781190 16278852
PCCA 606054 Aminoacid-levels-abnormal hyperglycinemia; elevated glycine; elevated alanine; elevated leucine; elevated isoleucine; elevated valine; elevated methionine; hyperlysinemia metabolic 2037281 7957390 9461363 13693094 15164333 15614906
PCCB 606054 Aminoacid-levels-abnormal hyperglycinemia; elevated glycine; elevated alanine; elevated leucine; elevated isoleucine; elevated valine; elevated methionine; elevated lysine metabolic 2037281 6820422 9461363 9683601 10820128 12409268 15614906
PDHA1 308930 Aminoacid-levels-abnormal alanine elevated metabolic 8982956
PDHA1 312170 Aminoacid-levels-abnormal elevated alanine metabolic 9686362 10486093 12379317 15473177 15558317 16256390 16412675
PDHX 245349 Aminoacid-levels-abnormal elevated alanine; elevated lactate metabolic 8584393 14518830 15303005
PRODH 239500 Aminoacid-levels-abnormal elevated proline; elevated hydroxyproline metabolic 12217952 12525555 15494707 15662599
PUS1 600462 Aminoacid-levels-abnormal elevated alanine metabolic 15971356
SCO2 604377 Aminoacid-levels-abnormal elevated alanine metabolic 11673586 15499950 16326995
SLC25A13 603471 Aminoacid-levels-abnormal elevated threonine; elevated citrulline; elevated methionine; elevated tyrosine; elevated lysine; elevated arginine metabolic 10369257 11153906 11432966 12132524 12512993 14680984 15805705 16278034
SLC25A13 605814 Aminoacid-levels-abnormal hyperaminoacidemia; elevated threonine; elevated citrulline; elevated methionine; elevated tyrosine; elevated lysine; elevated arginine; tyrosinemia; citrullinemia; hypermethioninemia; hyperphenylalaninemia metabolic 11281457 11343052 11343053 11793471 11999983 12424587 14680984 15542392
SLC25A15 238970 Aminoacid-levels-abnormal elevated glutamine; elevated asparagine; elevated alanine; elevated ornithine; decreased lysine; homocitrullinuria; hyperglutaminemia; hyperornithinemia metabolic 1432421 9329423 11355015 11552031 11668643 11814739 14759633 16376511
SLC25A19 607196 Aminoacid-levels-abnormal elevated alanine metabolic 12185364 12376931
SUOX 272300 Aminoacid-levels-abnormal elevated taurine; decreased cysteine metabolic 9050047 16140720
SURF1 220110 Aminoacid-levels-abnormal alanine elevated metabolic 11955926 16326995
TAT 276600 Aminoacid-levels-abnormal elevated tyrosine; plasma; tyrosinemia metabolic 1357662 2456982 9544843 11589874 11924112 12548382 16318910 16574453

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