Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11333
Gene Symbol: PDAP1
PDAP1
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 55
Gene Symbol: ACP3
ACP3
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 10914
Gene Symbol: PAPOLA
PAPOLA
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 10884
Gene Symbol: MRPS30
MRPS30
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 11334
Gene Symbol: TUSC2
TUSC2
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 5068
Gene Symbol: REG3A
REG3A
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 50807
Gene Symbol: ASAP1
ASAP1
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 8853
Gene Symbol: ASAP2
ASAP2
0.010 GeneticVariation phenotype BEFREE Knowing about risk factors for residual apnoeic-hypopnoeic events may assist in the timely provision of personalized care including the type of PAP therapy, attention to co-morbidities and choice of interface. 31336407 2020
Entrez Id: 361
Gene Symbol: AQP4
AQP4
0.010 AlteredExpression phenotype BEFREE AQP4 is a class of aquaporin channels that is mainly expressed in the brain, and its structural changes lead to life-threatening complications such as cardio-respiratory arrest, nephritis, and irreversible brain damage. 31644276 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.010 Biomarker phenotype BEFREE Blocking the CB hyperactivity with L-propargylglycine, an inhibitor of cystathionine-γ-lyase (CSE), which catalyzes H<sub>2</sub>S synthesis, prevented apneas in HO-2<sup>-/-</sup> mice. 30357741 2019
Entrez Id: 10199
Gene Symbol: MPHOSPH10
MPHOSPH10
0.010 Biomarker phenotype BEFREE Other parameters from PSG or overnight oximetry such as ODI, CT90, mean and minimal Spo<sub>2</sub>, and longest apnea duration can be associated with postoperative complications and may provide additional value in risk stratification and minimization. 30359618 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.010 Biomarker phenotype BEFREE A key role for NMDA receptor activation in impairing plasticity following concurrent neural apnoea and hypoxia is indicated since recurrent hypoxic neural apnoeas triggered increased phrenic inspiratory output in rats in which spinal NR2B-containing NMDA receptors were inhibited. 31280489 2019
Entrez Id: 1491
Gene Symbol: CTH
CTH
0.010 Biomarker phenotype BEFREE Blocking the CB hyperactivity with L-propargylglycine, an inhibitor of cystathionine-γ-lyase (CSE), which catalyzes H<sub>2</sub>S synthesis, prevented apneas in HO-2<sup>-/-</sup> mice. 30357741 2019
Entrez Id: 1312
Gene Symbol: COMT
COMT
0.010 AlteredExpression phenotype BEFREE Results and conclusions The aim of this study is to provide novel information on the haemodynamic, hormonal, and SNS changes, and also on COMT activity modification concomitantly occurring during apnoea, thus contributing substantively to the understanding of the pathophysiology of OSA. 31112503 2019
Entrez Id: 2056
Gene Symbol: EPO
EPO
0.010 GeneticVariation phenotype BEFREE We also tested whether caffeine (treatment of choice of AoP), erythropoietin (Epo - a neuroprotective factor and potent respiratory stimulant), and combination of both (caffeine+Epo) prevent the IH-mediated formation of apneas in a sex-dependent manner. 31254520 2019
Entrez Id: 9585
Gene Symbol: KIF20B
KIF20B
0.010 Biomarker phenotype BEFREE Other parameters from PSG or overnight oximetry such as ODI, CT90, mean and minimal Spo<sub>2</sub>, and longest apnea duration can be associated with postoperative complications and may provide additional value in risk stratification and minimization. 30359618 2019
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.010 GeneticVariation phenotype BEFREE Knockin mice expressing the homozygous phosphomimetic KCC2 mutations T906E/T1007E (<i>Kcc2<sup>E/E</sup></i> ), which prevented the normal developmentally regulated dephosphorylation of these sites, exhibited early postnatal death from respiratory arrest and a marked absence of cervical spinal neuron respiratory discharges. 31615901 2019
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
0.010 Biomarker phenotype BEFREE This case series illustrates the variability of RAPSN early-onset CMS, with patient 3, despite severe onset, revealing an almost complete reversal of myasthenic symptoms, not limited to apneic episodes. 30266223 2018
Entrez Id: 301
Gene Symbol: ANXA1
ANXA1
0.010 Biomarker phenotype BEFREE Acute apnea and an extended righting reflex time confirmed a mTBI injury at P35 and/or P70. 29887828 2018
Entrez Id: 3592
Gene Symbol: IL12A
IL12A
0.010 Biomarker phenotype BEFREE Acute apnea and an extended righting reflex time confirmed a mTBI injury at P35 and/or P70. 29887828 2018
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU
0.010 GeneticVariation phenotype BEFREE A de novo frameshift mutation in HNRNPU was identified in a 5-year-old boy with developmental delay associated with Rett-like features including stereotypic hand movements and respiratory abnormalities with episode of apnea and hyperpnea followed by falling. 29858110 2018
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
0.010 Biomarker phenotype BEFREE Analysis of all apnea events demonstrated that △SBP and the frequency of BP fluctuations were more remarkable following hypoxia than following arousal; △SBP correlated more with oxygen desaturation degree (r = 0.388, p < 0.01) and minimal SpO<sub>2</sub> (r = 0.392, p < 0.01) than with apnea length and desaturation duration. 29524090 2018
Entrez Id: 105375355
Gene Symbol: UPK3B
UPK3B
0.010 Biomarker phenotype BEFREE Acute apnea and an extended righting reflex time confirmed a mTBI injury at P35 and/or P70. 29887828 2018
Entrez Id: 113130
Gene Symbol: CDCA5
CDCA5
0.010 Biomarker phenotype BEFREE Acute apnea and an extended righting reflex time confirmed a mTBI injury at P35 and/or P70. 29887828 2018