Mitochondria Phenome Knowledgebase

Phenotypic Feature Respiration-disorders finds 99 Gene-Feature associations that are associated with 99 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Respiration-disorders respiratory #10407778
ACADL 201460 Respiration-disorders apneic respiratory 2000272
ACADM 201450 Respiration-disorders apnea; respiratory status impaired respiratory #7929823 9158144 15858970
ACADS 201470 Respiration-disorders respiratory distress respiratory 3571488 11134486 14595061
ACADSB 610006 Respiration-disorders apnea; apnea episodes; respiratory distress respiratory 10832746 12837870 16317551
ACADVL 201475 Respiration-disorders respiratory #9877038 #11433098
ACAT1 203750 Respiration-disorders polypnea; apnea respiratory #7173255 #8930414 11161836
ACSL6 604443 Respiration-disorders effort dyspnea respiratory 16572202
AGXT 259900 Respiration-disorders respiratory distress; shortness of breath respiratory 6829606 10586179
ALAS2 301300 Respiration-disorders dyspnea; breathlessness; chronic obstructive lung disease; airways disease respiratory 7560104 7949148 8107717 12663458 15477213
ALDH5A1 271980 Respiration-disorders respiratory distress; recurrent respiratory 9093300
AMT 605899 Respiration-disorders respiratory distress; apnea respiratory 9600239 9621520 12948742 15236413 16450403
AUH 250950 Respiration-disorders respiratory #9762598
BCKDHA 248600 Respiration-disorders apnea; respiratory failure respiratory 12042535
BCS1L 124000 Respiration-disorders episodes of apnea; apnea respiratory 11528392
BCS1L 603358 Respiration-disorders episodes of apnea; apnea; dyspnea respiratory 7577396
COX10 220110 Respiration-disorders respiratory #2834526 #12928484
CPOX 121300 Respiration-disorders respiratory #11202054 #11739202
CPS1 237300 Respiration-disorders apnea; apneas; respiratory distress respiratory #9686343 11301219 11536261
CPT1A 255120 Respiration-disorders respiratory #10625081 #11286380
CPT2 600649 Respiration-disorders respiratory #1528846 #1999498 #11389301 #12410208 #12560872
CYB5R3 250800 Respiration-disorders dyspnea respiratory 15953014
CYBA 233690 Respiration-disorders respiratory #10910929 #16157492
CYBB 306400 Respiration-disorders respiratory #15308575 #16138344
CYP11A1 201710 Respiration-disorders respiratory #15507506
CYP27A1 213700 Respiration-disorders respiratory #12000359 #14572142
CYP27B1 264700 Respiration-disorders respiratory #9415400 #9837822 #12050193
DGUOK 251880 Respiration-disorders respiratory distress respiratory #15639197 15964659
DLAT 245348 Respiration-disorders respiratory distress respiratory 2112155
DLD 248600 Respiration-disorders respiratory #413089 #3769994 #8652022 #9298831 #9540846 #10448086 #11687750 #12925875
DMPK 160900 Respiration-disorders respiratory #1301924 #9521960 #10323316 #10690232 #10733240 #11407162 #11424841 #11455309 #11807903 #15326270 #15770660
ECGF1 603041 Respiration-disorders respiratory #16198108
ETFB 231680 Respiration-disorders respiratory #9350306 #12815589
ETFDH 231680 Respiration-disorders respiratory #10356148 #12815589 #15662686 #15669683
ETHE1 602473 Respiration-disorders respiratory difficulties respiratory 7726376
FECH 177000 Respiration-disorders respiratory #10433022 #11886534
FH 606812 Respiration-disorders prolonged apnoeas respiratory 16151915
GCDH 231670 Respiration-disorders respiratory illness; respiratory complications of dystonia; chest wall dystonia embarrassing respiratory mechanics; respiratory stridor respiratory 11825066 12888985
GCK 606176 Respiration-disorders respiratory #14578306
GCSH 605899 Respiration-disorders respiratory distress; apnea respiratory 1671321
GDAP1 607706 Respiration-disorders respiratory #15019704
GK 307030 Respiration-disorders respiratory distress syndrome; complicated by pneumothorax respiratory #11032329 15026783 #15303806
GLDC 605899 Respiration-disorders respiratory distress; apneas; apnoeic episodes; respiratory abnormalities respiratory 10798358 15236413 15864413 16450403
GLUD1 606762 Respiration-disorders apnoeas; apneic episodes; cyanosis respiratory 8769351
HADH 231530 Respiration-disorders respiratory #10347277 #14693719
HADHA 609015 Respiration-disorders respiratory #7738175 #8865274 #10400133 #11855930 #12971428 #14630990 #15902556
HADHA 609016 Respiration-disorders respiratory #7846063 #9003853 #11855930 #14605499
HADHB 609015 Respiration-disorders respiratory #12548384 #12754706 #15902556 #16423905
HD 143100 Respiration-disorders apnea; obstructive sleep apnea; diaphragmatic chorea; abdominal chorea respiratory 1532132 15878590
HLCS 253270 Respiration-disorders apnea; dyspnea; respiratory distress; respiratory difficulties respiratory 2515377 8319716 8541348 #10190325 #10234606 10770035 #11185745 11735028 12124727 #12855220
HMGCL 246450 Respiration-disorders respiratory distress; cyanosis; respiratory assistance required respiratory 1886403 3128690 8440722 9439591 9463337
HMGCS2 605911 Respiration-disorders ventilatory support required respiratory 12647205
HSD17B10 300438 Respiration-disorders dyspnea; cyanosis respiratory #11102558 12696021 14729408 16148061
HSD3B2 201810 Respiration-disorders respiratory distress respiratory 1363812
IVD 243500 Respiration-disorders respiratory #16040844
LRPPRC 220111 Respiration-disorders abnormal respiratory patterns; respiratory arrest respiratory 8392290 8392291 11156535
MCCC1 210200 Respiration-disorders respiratory #11893004
MCCC2 210210 Respiration-disorders respiratory #9537490 #15877210
MFN2 601152 Respiration-disorders respiratory #16437557
MLYCD 248360 Respiration-disorders poor respirations respiratory #9177981 9869665
MMAA 251100 Respiration-disorders respiratory distress respiratory 6132336
MMAB 251110 Respiration-disorders respiratory distress respiratory 6132336 12471062 16410054
MPV17 256810 Respiration-disorders respiratory distress respiratory 10518083
MUT 251000 Respiration-disorders respiratory distress; respiratory distress during neonatal period respiratory 6132336 #11350191 #12948746 15781199
NAGS 237310 Respiration-disorders respiratory distress; episode of cyanosis respiratory 7623444 #9870213 12594532 15714518
NDUFA12L 252010 Respiration-disorders respiratory #16200211
NDUFS1 252010 Respiration-disorders respiratory #15824269
NDUFS2 252010 Respiration-disorders respiratory #11220739
NDUFS3 252010 Respiration-disorders respiratory #14729820
NDUFS4 252010 Respiration-disorders respiratory #9463323 #10944442 #11181577 #12616398 #14765537
NDUFS6 252010 Respiration-disorders respiratory #15372108
NDUFS7 252010 Respiration-disorders respiratory #1770777 #10360771
NDUFS8 252010 Respiration-disorders respiratory #9837812
NDUFV1 252010 Respiration-disorders apnea respiratory 11349233
OTC 311250 Respiration-disorders respiratory #2347583 #10064660 #12403252 #15174800 #15578616
OXCT1 245050 Respiration-disorders respiratory #7474899 #8803771 #9392403 #9521962 #10964512 #11757586 #15496607 #15669687
PC 266150 Respiration-disorders respiratory distress; apnea episodes; apnea; cyanosis; respiratory difficulties respiratory 7503391 7720232 9585612 10323732 15781190 #16278852 #16325442
PCCA 606054 Respiration-disorders respiratory problems; respiratory failure; apnoea; dyspnoea respiratory 7957390
PCCB 606054 Respiration-disorders apnea; pneumothoraces; weak respiratory effort; respiratory distress respiratory 7957390 9683601 10488817 10910839
PDHA1 308930 Respiration-disorders respiratory #8498846 #8982956 #9187674
PDHA1 312170 Respiration-disorders respiratory #9686362 #16552546
PDHB 179060 Respiration-disorders respiratory #15138885
PDHX 245349 Respiration-disorders respiratory #8229524 #8584393 #12557299
PEO1 609286 Respiration-disorders respiratory #1634620 #12163192 #15258213
POLG 203700 Respiration-disorders respiratory #15689359
POLG 258450 Respiration-disorders respiratory #15477547
POLG 607459 Respiration-disorders respiratory #12565911
RMRP 250250 Respiration-disorders respiratory #14569125
RMRP 607095 Respiration-disorders respiratory #11370632 #16252239
SCO1 220110 Respiration-disorders respiratory distress; apnea; recurrent episodes of apnea respiratory 11013136
SCO2 604377 Respiration-disorders respiratory #10545952 #10749987 #10805329 #11673586 #12020273 #14994243 #15210538 #15499950 #16765077
SDHA 252011 Respiration-disorders respiratory difficulties; apnea respiratory 12794685
SDHB 115310 Respiration-disorders respiratory #16304664
SLC19A2 249270 Respiration-disorders respiratory #14627317
SLC25A15 238970 Respiration-disorders respiratory distress respiratory 9329423
SLC25A19 607196 Respiration-disorders respiratory #12185364 #12376931
SLC25A20 212138 Respiration-disorders respiratory #1598097 #10384385 #10408757 #10876004 #12801121 #12859414 #15057979 #15159657 #15365988
SOD1 105400 Respiration-disorders respiratory #7647793 #8907321 #9444365 #9455983 #10732812 #10751275 #10809943 #12480087 #14517684 #14759637 #15235802
STAR 201710 Respiration-disorders cyanosis; respiratory distress respiratory 10566637 15546900
SUOX 272300 Respiration-disorders respiratory #9050047 #10519592 #16140720
SURF1 220110 Respiration-disorders respiratory #9837813 #10647889 #11955926 #15214016 #16222681 #16225813
TAZ 300069 Respiration-disorders respiratory #7616547 #9382096
TAZ 300183 Respiration-disorders hypoventilation; cyanosis; respiratory distress respiratory 9332651
TAZ 302060 Respiration-disorders cyanosis; dyspnoea; respiratory symptoms respiratory 15124852 16235007
TK2 609560 Respiration-disorders respiratory #1734306 #2538042 #11687801 #12269728 #12655576 #12682338 #12873860 #15907288
UQCRB 124000 Respiration-disorders respiratory #12709789
WFS1 222300 Respiration-disorders respiratory #10521293 #12707373 #15277431

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