Mitochondria Phenome Knowledgebase

Phenotypic Feature Acid-base-imbalance finds 91 Gene-Feature associations that are associated with 91 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Acid-base-imbalance metabolic #2000272
ACADM 201450 Acid-base-imbalance metabolic #2279505 #7876853 #11349232 #11486912 #12897989 #15858970
ACADS 201470 Acid-base-imbalance metabolic #2808706 #3571488 #7776094 #12061367
ACADSB 610006 Acid-base-imbalance metabolic #16317551
ACADVL 201475 Acid-base-imbalance metabolic #7479827 #7494405 #9498103 #9877038 #11433098 #11524729
ACAT1 203750 Acid-base-imbalance metabolic #1346617 #1349518 #7173255 #8103405 #8930414 #9700610 #10604145 #11161836 #11914035 #12754704 #15877211
AGXT 259900 Acid-base-imbalance metabolic #10586179 #15327387
ALDH6A1 603178 Acid-base-imbalance metabolic #7609453
ATP7B 277900 Acid-base-imbalance metabolic #15909172
ATPAF2 604273 Acid-base-imbalance metabolic #14757859
AUH 250950 Acid-base-imbalance metabolic #3082934 #9762598
BCKDHA 248600 Acid-base-imbalance metabolic #1885764 #2060625 #2703538 #8161368 #12042535 #14567968
BCKDHB 248600 Acid-base-imbalance metabolic #8161368 #11448970 #14567968
BCS1L 124000 Acid-base-imbalance metabolic #11528392 #12910490
BCS1L 603358 Acid-base-imbalance metabolic #7577396 #9482441 #12027811 #12215968
COX10 220110 Acid-base-imbalance metabolic #2834526 #10767350 #12928484 #15455402
COX15 220110 Acid-base-imbalance metabolic #12474143 #15235026 #15863660
CPT1A 255120 Acid-base-imbalance metabolic #9691089 #11286380 #11350182 #11441142 #12111367 #12189492 #15669684
CPT2 600649 Acid-base-imbalance metabolic #1999498 #8682496 #9600456 #11389301 #11477613
CYP11A1 201710 Acid-base-imbalance metabolic #16705068
CYP11B2 124080 Acid-base-imbalance metabolic #9177280
DBT 248600 Acid-base-imbalance metabolic #2010537 #9239422 #9621512 #14567968
DGUOK 251880 Acid-base-imbalance metabolic #11687800 #12205643 #12210798 #15639197 #15883261 #15887277 #16263314
DLAT 245348 Acid-base-imbalance metabolic #2112155 #16049940
DLD 248600 Acid-base-imbalance metabolic #413089 #3769994 #6418873 #6897145 #8506365 #8968745 #9298831 #9540846 #9934985 #10448086 #11687750 #12925875 #14765544 #15712224
DLST 203740 Acid-base-imbalance metabolic #1640293 #8295396
ECGF1 603041 Acid-base-imbalance metabolic #14720311 #14757860 #16198108 #16294144 #16530527
ETFA 231680 Acid-base-imbalance metabolic #1430199 #7912128 #12815589 #16510302
ETFB 231680 Acid-base-imbalance metabolic #7912128 #12815589 #16510302
ETFDH 231680 Acid-base-imbalance metabolic #7912128 #10356148 #12815589 #15662686 #15669683
ETHE1 602473 Acid-base-imbalance metabolic #1683940 #12382164 #14732903
FH 606812 Acid-base-imbalance metabolic #8200987
GCDH 231670 Acid-base-imbalance metabolic #7564239 #9856558 #11825066 #12473778 #12888985
GFM1 609060 Acid-base-imbalance metabolic #15537906
GK 307030 Acid-base-imbalance metabolic #9719371 #11032329 #11479736 #12636049 #15026783 #15303806
GLUD1 606762 Acid-base-imbalance metabolic #9108870 #11297618 #15517495
HADH 231530 Acid-base-imbalance metabolic #10347277 #11489939 #16725361
HADHA 609015 Acid-base-imbalance metabolic #8865274 #11855930 #12838198 #12971428 #14630990
HADHA 609016 Acid-base-imbalance metabolic #7846063 #8094173 #8736409 #9003853 #10352164 #11855930 #12162610
HADHB 609015 Acid-base-imbalance metabolic #9305349 #12548384 #12754706 #12838198 #16423905
HLCS 253270 Acid-base-imbalance metabolic #2515377 #8319716 #8541348 #9686819 #10190325 #10234606 #10653324 #10770035 #11185745 #11735028 #12124727 #12633764 #12855220
HMGCL 246450 Acid-base-imbalance metabolic #1886403 #3128690 #8440722 #9439591 #9463337 #11129331 #11461194 #15308132
HMGCS2 605911 Acid-base-imbalance metabolic #9337379 #9727719 #11228257 #12072887 #12647205
HSD17B10 300438 Acid-base-imbalance metabolic #11102558 #12112118 #12696021 #14729408 #15059617 #16148061
IVD 243500 Acid-base-imbalance metabolic #2124776 #8765634 #8830183 #10191353 #10677295 #12911192 #15624372 #16602101
LRPPRC 220111 Acid-base-imbalance metabolic #8392290 #8392291 #11156535 #16143014
MCCC1 210200 Acid-base-imbalance metabolic #2738779 #11170888
MCCC2 210210 Acid-base-imbalance metabolic #9537490 #11170888 #11181649 #15877210
MLYCD 248360 Acid-base-imbalance metabolic #3709568 #6145813 #9177981 #10417274 #12955715 #16275149
MMAA 251100 Acid-base-imbalance metabolic #6132336 #12438653 #15523652
MMAB 251110 Acid-base-imbalance metabolic #6132336 #12471062 #15781192 #16410054
MPV17 256810 Acid-base-imbalance metabolic #10518083 #11431741 #16909392
MRPS16 609204 Acid-base-imbalance metabolic #15505824
MUT 251000 Acid-base-imbalance metabolic #1346616 #9554742 #10893496 #10923046 #11161845 #11350191 #11528502 #12402345 #12948746 #15643616 #16281286 #16435223 #16451139
NAGS 237310 Acid-base-imbalance metabolic #9877039 #12447942 #12594532 #12754705 #15714518
NDUFA12L 252010 Acid-base-imbalance metabolic #16200211
NDUFS1 252010 Acid-base-imbalance metabolic #11349233 #15576045 #15824269
NDUFS2 252010 Acid-base-imbalance metabolic #11220739 #15981016
NDUFS3 252010 Acid-base-imbalance metabolic #14729820
NDUFS4 252010 Acid-base-imbalance metabolic #10944442 #11181577 #14765537
NDUFS6 252010 Acid-base-imbalance metabolic #15372108
NDUFS7 252010 Acid-base-imbalance metabolic #15576045
NDUFS8 252010 Acid-base-imbalance metabolic #9837812 #15981016
NDUFV1 252010 Acid-base-imbalance metabolic #10080174 #11349233 #15576045 #15981016
NDUFV2 252010 Acid-base-imbalance metabolic #12754703
OGDH 203740 Acid-base-imbalance metabolic #1640293
OTC 311250 Acid-base-imbalance metabolic #10064660 #12788037 #15174800
OXCT1 245050 Acid-base-imbalance metabolic #7474899 #8803771 #9521962 #9671268 #10964512 #15496607 #15669687
PC 266150 Acid-base-imbalance metabolic #826106 #6422150 #6422151 #6424438 #7503391 #7720232 #9585002 #10323732 #12112657 #15781190 #16278852 #16325442
PCCA 606054 Acid-base-imbalance metabolic #2037281 #6790853 #7494403 #9385377 #9683601 #9887338 #10101253 #10502773 #10780784 #12559849 #13693094 #15164333 #15614906
PCCB 606054 Acid-base-imbalance metabolic #2037281 #6820422 #9461363 #9683601 #10502773 #10780784 #10820128 #10910839 #12409268 #12559849 #15614906
PCK2 261650 Acid-base-imbalance metabolic #2044592 #3089795 #9657976
PDHA1 308930 Acid-base-imbalance metabolic #1641082 #8498846 #8982956 #9187674 #9266390
PDHA1 312170 Acid-base-imbalance metabolic #1338114 #3137520 #7573035 #8504306 #8504309 #9187674 #9686362 #11870584 #12163191 #12379317 #14635113 #15384102 #15473177 #15558317 #16256390 #16412675 #16552546
PDHB 179060 Acid-base-imbalance metabolic #15138885
PDHX 245349 Acid-base-imbalance metabolic #8584393 #9399911 #9467010 #9501264 #11935326 #14518830 #15303005 #16566017
POLG 157640 Acid-base-imbalance metabolic #2067633
POLG 203700 Acid-base-imbalance metabolic #15689359 #15929042 #16177225 #16545482
POLG 258450 Acid-base-imbalance metabolic #15477547 #16638794
PUS1 600462 Acid-base-imbalance metabolic #7726239 #14981724 #15971356
SCO1 220110 Acid-base-imbalance metabolic #11013136
SCO2 604377 Acid-base-imbalance metabolic #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16765077
SDHA 252011 Acid-base-imbalance metabolic #10746566 #12794685 #16361598
SLC19A2 249270 Acid-base-imbalance metabolic #10978358 #14994241 #16373304
SLC25A13 603471 Acid-base-imbalance metabolic #15805705
SLC25A13 605814 Acid-base-imbalance metabolic #15542392
SLC25A15 238970 Acid-base-imbalance metabolic #9329423 #14759633
SLC25A19 607196 Acid-base-imbalance metabolic #12185364 #12376931
SLC25A20 212138 Acid-base-imbalance metabolic #1598097 #9686371 #10384384 #10384385 #10408757 #10876004 #11350184 #12801121 #12890396 #15365988
SLC25A4 609283 Acid-base-imbalance metabolic #10364542 #12565915 #16155110
STAR 201710 Acid-base-imbalance metabolic #8634702 #10323391 #11061515 #15666846
SUCLA2 609560 Acid-base-imbalance metabolic #15877282
SUOX 272300 Acid-base-imbalance metabolic #9050047 #12368985
SURF1 220110 Acid-base-imbalance metabolic #9837813 #10647889 #10746561 #11409433 #11955926 #14557577 #16222681 #16225813
TAZ 302060 Acid-base-imbalance metabolic #8630491 #8739954 #12032589 #14654353 #15098233
TK2 609560 Acid-base-imbalance metabolic #2538042 #11687801 #12269728 #12391347 #12655576 #15907288 #16504786
UQCRB 124000 Acid-base-imbalance metabolic #12709789

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