Mitochondria Phenome Knowledgebase

Phenotypic Feature Acidosis finds 102 Gene-Feature associations that are associated with 89 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Acidosis lactic acidosis metabolic 2000272
ACADM 201450 Acidosis mild; lactate acidosis; metabolic acidosis metabolic 2279505 7876853 12897989 15858970
ACADS 201470 Acidosis metabolic acidosis; neonatal metabolic 2808706 3571488 7776094 12061367
ACADSB 610006 Acidosis lactic acidosis metabolic 16317551
ACADVL 201475 Acidosis metabolic acidosis metabolic 9877038 11433098
ACAT1 203750 Acidosis metabolic acidosis; ketoacidosis metabolic 1349518 7173255 8103405 8930414 9700610 10604145 11161836 11914035 12754704 15877211
AGXT 259900 Acidosis metabolic acidosis metabolic 10586179 15327387
ALDH6A1 603178 Acidosis metabolic acidosis; lactic acidosis metabolic 7609453
ATP7B 277900 Acidosis lactic acidosis; putamen acidosis; cerebral acidosis metabolic 15909172
ATPAF2 604273 Acidosis lactic acidosis metabolic 14757859
AUH 250950 Acidosis hyperchloraemic acidosis metabolic 3082934 9762598
BCKDHA 248600 Ketosis ketoacidosis; ketonuria; urinary ketones metabolic 1885764 2060625 2703538 8161368 12042535 14567968
BCKDHB 248600 Ketosis ketoacidosis; ketoaciduria metabolic 8161368 11448970 14567968
BCS1L 124000 Acidosis lactic acidosis; ketosis; hyperlactatemia metabolic 11528392 12910490
BCS1L 603358 Acidosis lactic acidosis; metabolic acidosis metabolic 7577396 9482441 12027811 12215968
BCS1L 603358 Renal-insufficiency renal tubular dysfunction; renal tubular acidosis; De Toni Fanconi Debre syndrome; bicarbonate loss genitourinary 7577396 9482441 12215968
COX10 220110 Renal-insufficiency tubular dysfunction; renal tubular acidosis; De Toni Fanconi Debre syndrome; hypercalciuria; hyperphosphaturia; proteinuria genitourinary 2834526 10767350
COX10 220110 Acidosis lactic acidosis; CSF lactic acidosis; metabolic acidosis metabolic 2834526 10767350 12928484 15455402
COX15 220110 Acidosis lactic acidosis; CSF; blood metabolic 12474143 15235026 15863660
CPT1A 255120 Renal-insufficiency renal tubular acidosis; chloride levels elevated; low serum bicarbonate genitourinary 11286380 11350183
CPT1A 255120 Acidosis low pH; metabolic acidosis; lactic acidosis metabolic 9691089 11286380 11441142 15669684
CPT2 600649 Acidosis lactic acidosis; metabolic acidosis; blood acidosis metabolic 1999498 8682496 9600456 11389301 11477613
CYP11A1 201710 Acidosis metabolic acidosis metabolic 16705068
CYP11B2 124080 Acidosis metabolic; neonates metabolic 9177280
DBT 248600 Acidosis lactic acidosis metabolic 9239422
DBT 248600 Ketosis ketoacidosis metabolic 2010537 9239422 9621512 14567968
DGUOK 251880 Acidosis lactic acidosis; blood; CSF; MRS lactate peak metabolic 11687800 12205643 12210798 15639197 15883261 15887277 16263314
DLAT 245348 Acidosis lactic acidosis; CSF lactate metabolic 2112155 16049940
DLD 248600 Acidosis lactic acidosis; ketoacidosis; metabolic acidosis; CSF lactate abnormal; lactic acidemia metabolic 413089 6418873 6897145 8506365 8968745 9298831 9540846 9934985 10448086 11687750 12925875 14765544 15712224
DLST 203740 Acidosis lactic acidosis; hyperlactatemia; metabolic acidosis; episodes; infection related metabolic 1640293 8295396
ECGF1 603041 Acidosis lactic acidosis; hyperlacacidemia; lactate elevated metabolic 14720311 14757860 16198108 16294144 16530527
ETFA 231680 Acidosis lactic acidosis; metabolic acidosis metabolic 1430199 7912128 12815589 16510302
ETFB 231680 Acidosis lactic acidosis; metabolic acidosis metabolic 7912128 12815589 16510302
ETFDH 231680 Acidosis lactic acidosis metabolic 7912128 10356148 12815589 15662686 15669683
ETHE1 602473 Acidosis lactic acidosis; plasma; CSF metabolic 1683940 12382164 14732903
FH 606812 Acidosis lactic acidosis; CSF abnormal metabolic 8200987
GCDH 231670 Acidosis metabolic acidosis; lactate acidosis; systemic acidosis metabolic 7564239 9856558 11825066 12473778 12888985
GFM1 609060 Acidosis lactic acidosis metabolic 15537906
GK 307030 Acidosis metabolic acidosis; ketoacidosis metabolic 9719371 11032329 11479736 12636049 15026783 15303806
HADH 231530 Acidosis metabolic acidosis metabolic 10347277 16725361
HADHA 609015 Acidosis lactic acidosis metabolic 8865274 11855930 12971428 14630990
HADHA 609016 Acidosis metabolic acidosis; lactic acidosis metabolic 7846063 8736409 9003853 10352164 11855930
HADHB 609015 Acidosis lactic acidosis; metabolic acidosis metabolic 12548384 12754706 16423905
HLCS 253270 Acidosis lactic acidosis; lactic acidemia; acidotic; metabolic acidosis; blood; CSF metabolic 2515377 8319716 8541348 9686819 10190325 10234606 10653324 10770035 11185745 11735028 12124727 12633764 12855220
HLCS 253270 Ketosis ketoacidosis; ketonuria; ketotic hypoglycemia metabolic 2515377 8541348 9686819 10190325 11185745 12124727
HMGCL 246450 Acidosis metabolic acidosis; lactic acidosis; infection triggered; vomiting triggered metabolic 1886403 3128690 8440722 9463337 11129331 11461194 15308132
HMGCS2 605911 Acidosis metabolic acidosis metabolic 12647205
HSD17B10 300438 Acidosis lactic acidosis; CSF; blood metabolic 11102558 12112118 12696021 14729408 16148061
IVD 243500 Acidosis lactic acidosis; ketosis; episodes; ketoacidosis metabolic 2124776 8765634 8830183 10191353 10677295 12911192 15624372 16602101
IVD 243500 Hyperglycemia hyperglycaemia; severe hyperglycaemia; diabetic ketoacidosis; diabetic coma metabolic 2124776 8830183 12911192 16602101
IVD 243500 Seizures acidosis progressing to seizures neurologic 12911192 16602101
LRPPRC 220111 Acidosis metabolic acidosis; lactate acidosis; blood; CSF metabolic 8392290 8392291 11156535 16143014
LRPPRC 220111 Stroke-like-episodes acute crises of metabolic acidosis; strokelike episodes neurologic 8392290 8392291 11156535
MCCC1 210200 Acidosis metabolic acidosis metabolic 2738779 11170888
MCCC2 210210 Acidosis metabolic acidosis; lactic acidosis metabolic 9537490 11170888 11181649 15877210
MLYCD 248360 Acidosis metabolic acidosis; lactic acidosis; blood; CSF metabolic 3709568 6145813 9177981 10417274 12955715 16275149
MMAA 251100 Acidosis metabolic acidosis metabolic 6132336 12438653 15523652
MMAB 251110 Acidosis metabolic acidosis; ketoacidosis metabolic 6132336 12471062 15781192 16410054
MPV17 256810 Acidosis metabolic acidosis metabolic 10518083 11431741 16909392
MRPS16 609204 Acidosis lactic acidosis; metabolic acidosis metabolic 15505824
MUT 251000 Acidosis metabolic acidosis; ketoacidosis; episodes; lactic acidosis metabolic 1346616 9554742 10923046 11161845 11350191 11528502 12402345 12948746 15643616 16281286 16435223 16451139
NAGS 237310 Acidosis lactic acidosis; metabolic acidosis metabolic 12447942 15714518
NAGS 237310 Renal-insufficiency renal tubular acidosis; oliguria genitourinary 7623444 12447942
NDUFA12L 252010 Acidosis CSF lactate elevated metabolic 16200211
NDUFS1 252010 Acidosis lactic acidosis; hyperlactatorachia metabolic 11349233 15576045 15824269
NDUFS2 252010 Acidosis lactic acidosis metabolic 11220739 15981016
NDUFS3 252010 Acidosis lactic acidosis; CSF metabolic 14729820
NDUFS4 252010 Acidosis lactic acidosis; blood; CSF metabolic 10944442 11181577 14765537
NDUFS6 252010 Acidosis lactic acidosis metabolic 15372108
NDUFS7 252010 Acidosis lactic acidosis metabolic 15576045
NDUFS8 252010 Acidosis lactic acidosis; CSF; blood metabolic 9837812 15981016
NDUFV1 252010 Acidosis lactic acidosis; metabolic acidosis; blood; CSF metabolic 10080174 11349233 15576045 15981016
NDUFV2 252010 Acidosis lactic acidosis; hyperlactatemia metabolic 12754703
OGDH 203740 Acidosis metabolic acidosis; lactic acidosis metabolic 1640293
OXCT1 245050 Acidosis ketoacidosis; metabolic acidosis; episodic metabolic 7474899 8803771 9521962 9671268 10964512 15496607 15669687
OXCT1 245050 Ketosis ketoacidosis; ketonemia; ketonuria; permanent ketosis; episodic; ketoacidotic crisis; ketone body utilization defect metabolic 7474899 8803771 9521962 9671268 15496607 15669687
PC 266150 Acidosis metabolic; lactic acidosis; severe acidosis metabolic 826106 6422150 6422151 6424438 7503391 7720232 9585002 10323732 12112657 15781190 16278852 16325442
PCCA 606054 Acidosis lactic acidosis; metabolic acidosis; acidotic episodes metabolic 2037281 6790853 7494403 9385377 9683601 9887338 10101253 10502773 10780784 13693094 15164333 15614906
PCCA 606054 Ketosis ketoacidosis metabolic 2037281 6790853 9385377 9683601 9887338 10101253 10502773 10780784 12559849 13693094 15164333 15614906
PCCB 606054 Acidosis lactic acidosis; metabolic acidosis; CSF; blood metabolic 2037281 6820422 9461363 9683601 10502773 10780784 10820128 10910839 12409268 15614906
PCCB 606054 Ketosis ketoacidosis; ketonuria; CSF; blood metabolic 2037281 6820422 9461363 9683601 10502773 10780784 10910839 12409268 12559849 15614906
PCK2 261650 Acidosis lactic acidosis; lactic acidemia metabolic 2044592 3089795 9657976
PDHA1 308930 Acidosis lactic acidosis; blood; CSF metabolic 1641082 8498846 8982956 9187674 9266390
PDHA1 312170 Acidosis lactic acidosis; CSF; blood; lactic acidemia metabolic 1338114 3137520 7573035 8504306 8504309 9187674 9686362 11870584 12163191 12379317 14635113 15384102 15473177 15558317 16256390 16412675 16552546
PDHB 179060 Acidosis lactic acidosis metabolic 15138885
PDHX 245349 Acidosis lactic acidosis; hyperlactacidemia; blood; CSF metabolic 8584393 9399911 9467010 9501264 11935326 14518830 15303005 16566017
POLG 157640 Acidosis lactic acidosis metabolic 2067633
POLG 203700 Acidosis lactic acidosis; blood; CSF metabolic 15689359 15929042 16177225 16545482
POLG 258450 Acidosis lactic acidosis metabolic 15477547 16638794
PUS1 600462 Acidosis lactic acidosis; lactic aciduria metabolic 7726239 14981724 15971356
SCO1 220110 Acidosis ketosis; lactic acidosis metabolic 11013136
SCO2 604377 Acidosis lactic acidosis; blood; CSF; metabolic acidosis metabolic 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16765077
SDHA 252011 Acidosis lactic acidosis metabolic 10746566 16361598
SLC19A2 249270 Acidosis blood; CSF; ketoacidosis metabolic 10978358 16373304
SLC19A2 249270 Ketosis ketoacidosis; ketonuria metabolic 14994241 16373304
SLC25A13 603471 Acidosis lactic acidosis metabolic 15805705
SLC25A15 238970 Acidosis lactic acidemia metabolic 14759633
SLC25A19 607196 Acidosis lactic acidosis metabolic 12185364 12376931
SLC25A20 212138 Acidosis metabolic acidosis; lactic acidosis; hyperlactic acidemia metabolic 9686371 10384384 10384385 10876004 11350184 12801121 15365988
SLC25A4 609283 Acidosis lactic acidosis; fasting serum lactate elevated; exercise related metabolic 10364542 12565915 16155110
STAR 201710 Acidosis metabolic acidosis; mineralcorticoid related metabolic 8634702 10323391 11061515 15666846
SUCLA2 609560 Acidosis lactic acidosis metabolic 15877282
SUOX 272300 Acidosis lactic acidosis metabolic 9050047 12368985
SURF1 220110 Acidosis ketosis; lactic acidosis; CSF; blood; metabolic acidosis; hyperlactacidemia metabolic 9837813 10647889 10746561 11409433 11955926 14557577 16222681 16225813
TAZ 302060 Acidosis lactic acidosis; lactic acidemia metabolic 8630491 8739954 12032589 14654353 15098233
TK2 609560 Acidosis lactic acidosis metabolic 2538042 11687801 12269728 12391347 12655576 15907288 16504786
UQCRB 124000 Acidosis metabolic acidosis; lactic acidosis; hyperlactatemia metabolic 12709789

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