Mitochondria Phenome Knowledgebase

Phenotypic Feature Respiratory-insufficiency finds 51 Gene-Feature associations that are associated with 51 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADVL 201475 Respiratory-insufficiency respiratory failure; progressive respiratory failure; respiratory distress; poor respiratory effort respiratory 9877038 11433098
COX10 220110 Respiratory-insufficiency respiratory failure; central respiratory failure respiratory 12928484
CPOX 121300 Respiratory-insufficiency respiratory paralysis respiratory 11202054
CPT1A 255120 Respiratory-insufficiency respiratory arrest; apnea respiratory 10625081 11286380
CPT2 600649 Respiratory-insufficiency respiratory distress; respiratory arrest respiratory 1528846 1999498 12410208 12560872
CYBA 233690 Respiratory-insufficiency respiratory conditions impaired; respiratory problems; sarkoidosis like lung disease; related to immunodeficiency respiratory 10910929 16157492
CYBB 306400 Respiratory-insufficiency pulmonary insufficiency; related to immunodeficiency respiratory 15308575 16138344
CYP11A1 201710 Respiratory-insufficiency respiratory failure respiratory 15507506
CYP27A1 213700 Respiratory-insufficiency coughing; sterol storage giant foamy cells; bronchoalveolar lavage fluids abnormal; lung biopsy abnormal respiratory 12000359 14572142
CYP27B1 264700 Respiratory-insufficiency respiratory distress; pneumonia; respiratory stridor respiratory 9415400 9837822 12050193
DLD 248600 Respiratory-insufficiency abnormal respiratory patterns; respiratory arrest; apnea; hypoventilation respiratory 413089 8652022 9540846 12925875
DMPK 160900 Respiratory-insufficiency respiratory distress; respiratory difficulties; apnea; dyspnea; hypercapnia; hypoventilation; respiratory disease; cyanotic respiratory 1301924 9521960 10323316 10690232 10733240 11407162 11424841 11455309 11807903 15326270 15770660
ECGF1 603041 Respiratory-insufficiency respiratory 16198108
ETFB 231680 Respiratory-insufficiency respiratory distress; respiratory arrest respiratory 9350306 12815589
ETFDH 231680 Respiratory-insufficiency respiratory distress; respiratory arrest; cyanosis; central apnea; hypoventilation; nonobstructive hypoventilation; apneic respiratory 10356148 12815589 15669683
FECH 177000 Respiratory-insufficiency dyspnoea respiratory 10433022 11886534
GCK 606176 Respiratory-insufficiency respiratory failure respiratory 14578306
GDAP1 607706 Respiratory-insufficiency due to diaphragm paralysis respiratory 15019704
GK 307030 Respiratory-insufficiency episodes of apnoea; respiratory failure respiratory 11032329
HADH 231530 Respiratory-insufficiency respiratory arrest; infection triggered; respiratory distress; cyanosis respiratory 10347277 14693719
HADHA 609015 Respiratory-insufficiency respiratory failure; respiratory distress; bronchiolitis; apnea; granular density in both lungs; shortness of breath; infection triggered respiratory 8865274 10400133 11855930 12971428 14630990 15902556
HADHA 609016 Respiratory-insufficiency respiratory distress; respiratory failure; acute respiratory distress syndrome; ARDS; cyanosis respiratory 7846063 9003853 11855930 14605499
HADHB 609015 Respiratory-insufficiency respiratory distress; acute respiratory distress; bronchiolitis; dyspnea; hypoventilation; shortness of breath respiratory 12548384 12754706 15902556 16423905
MCCC1 210200 Respiratory-insufficiency respiratory 11893004
MCCC2 210210 Respiratory-insufficiency progressive respiratory insufficiency; respiratory failure; respiratory distress; respiratory depression; apnoea; cyanosis respiratory 9537490 15877210
MFN2 601152 Respiratory-insufficiency respiratory 16437557
NDUFA12L 252010 Respiratory-insufficiency sleep apnea; respiratory failure respiratory 16200211
NDUFS1 252010 Respiratory-insufficiency respiratory failure; respiratory difficulties respiratory 15824269
NDUFS2 252010 Respiratory-insufficiency apnea; episodes of apnea; sleep apnea; respiratory insufficiency during the first day of life respiratory 11220739
NDUFS3 252010 Respiratory-insufficiency severe respiratory insufficiency respiratory 14729820
NDUFS4 252010 Respiratory-insufficiency bradypnea; cyanosis; apnea; apnoeic episodes; progressive respiratory insufficiency; hypoventilation; apnoe respiratory 9463323 10944442 11181577 12616398 14765537
NDUFS6 252010 Respiratory-insufficiency central hypoventilation; hypoventilation respiratory 15372108
NDUFS7 252010 Respiratory-insufficiency respiratory distress; abnormal breathing patterns respiratory 1770777 10360771
NDUFS8 252010 Respiratory-insufficiency episodes of apnea and cyanosis; hypercarbia respiratory 9837812
OTC 311250 Respiratory-insufficiency progressive respiratory insufficiency; respiratory arrest; apnea; respiratory distress respiratory 2347583 10064660 12403252
OXCT1 245050 Respiratory-insufficiency insufficiency; breathing difficulties; laboured breathing; acidotic breathing; respiratory problems; cyanosis; peripheral cyanosis respiratory 7474899 8803771 9392403 9521962 15669687
PDHA1 308930 Respiratory-insufficiency hypoventilation; apneic; respiratory patterns abnormal; dyspnea; respiratory distress; respiratory failure respiratory 8498846 8982956 9187674
PDHB 179060 Respiratory-insufficiency poor respiratory effort; respiratory arrrest; respiratory stridor respiratory 15138885
PDHX 245349 Respiratory-insufficiency respiratory distress; respiratory arrest respiratory 8229524 8584393
PEO1 609286 Respiratory-insufficiency sudden respiratory insufficiency; related to muscle weakness; chest wall weakness; respiratory failure respiratory 1634620 12163192 15258213
POLG 203700 Respiratory-insufficiency ventilatory insufficiency; due to generalized muscle weakness respiratory 15689359
POLG 607459 Respiratory-insufficiency respiratory 12565911
RMRP 607095 Respiratory-insufficiency respiratory insufficiency spontaneously occurred; lethal respiratory insufficiency respiratory 11370632 16252239
SCO2 604377 Respiratory-insufficiency respiratory stridor; dyspnoe; breath holding spells; inspiratory stridor; respiratory failure; respiratory difficulties respiratory 10545952 10749987 10805329 11673586 12020273 14994243 15210538 15499950 16765077
SDHB 115310 Respiratory-insufficiency sudden dyspnea; dyspnea respiratory 16304664
SLC19A2 249270 Respiratory-insufficiency apnea; cyanosis respiratory 14627317
SLC25A20 212138 Respiratory-insufficiency respiratory distress; respiratory failure; respiratory problems; apnea; hypoxemia; apneic periods; apnoeic attacks respiratory 1598097 10384385 10408757 10876004 12801121 12859414 15057979 15365988
SOD1 105400 Respiratory-insufficiency respiratory failure; due to progressive weakness of the respiratory muscles; respiratory muscle paralysis; overt respiratory symptoms; dyspnea respiratory 7647793 8907321 9444365 9455983 10732812 10751275 10809943 12480087 14517684 14759637 15235802
SUOX 272300 Respiratory-insufficiency respiratory failure; difficulty breathing; respiratory distress; stridor respiratory 9050047 10519592 16140720
SURF1 220110 Respiratory-insufficiency central abnormalities of ventilation; episodes of apnea; hypoventilation; sleep hypoventilation; apneic spells; respiratory failure; respiratory problems; cyanosis respiratory 9837813 10647889 11955926 15214016 16225813
TAZ 300069 Respiratory-insufficiency cyanosed; periodic deeper cyanosis respiratory 7616547 9382096
TK2 609560 Respiratory-insufficiency respiratory distress; respiratory failure; dyspnea respiratory 1734306 2538042 11687801 12269728 12655576 12682338 12873860 15907288
WFS1 222300 Respiratory-insufficiency respiratory arrest; respiratory failure; central apnea; central sleep apnea respiratory 10521293 12707373 15277431

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