CENPJ, centromere protein J, 55835

N. diseases: 150; N. variants: 24
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4 		disease Disease or Syndrome 1 13 0.600 None 1.000 2 13 2006 2010
CUI: C4268182
Disease: Obesity hypoventilation syndrome (OHS)
Obesity hypoventilation syndrome (OHS) 		disease Disease or Syndrome 3 0.020 None 1.000 2 2018 2020
CUI: C4551761
Disease: Excessive daytime sleepiness
Excessive daytime sleepiness 		phenotype Sign or Symptom 46 5 0.020 None 1.000 2 2018 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2019 2019
CUI: C0240602
Disease: opioid use
opioid use 		disease Mental or Behavioral Dysfunction 39 5 0.010 None 1.000 1 2018 2018
CUI: C0282667
Disease: Infant, Very Low Birth Weight
Infant, Very Low Birth Weight 		disease Disease or Syndrome 26 1 0.010 None 1.000 1 2019 2019
CUI: C0456065
Disease: Infant, Extremely Low Birth Weight
Infant, Extremely Low Birth Weight 		phenotype Disease or Syndrome 15 1 0.010 None 1.000 1 2018 2018
CUI: C0543837
Disease: Respiratory distress syndrome, children
Respiratory distress syndrome, children 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0740304
Disease: COPD exacerbation
COPD exacerbation 		disease Disease or Syndrome 33 2 0.010 None 1.000 1 2017 2017
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		disease Disease or Syndrome 58 9 0.010 None 1.000 1 2019 2019
CUI: C0858259
Disease: Nasal discomfort
Nasal discomfort 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C4237227
Disease: Obstructive sleep apnea hypopnea
Obstructive sleep apnea hypopnea 		disease Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4285910
Disease: Obstructive sleep apnea hypopnea syndrome
Obstructive sleep apnea hypopnea syndrome 		disease Disease or Syndrome 41 7 0.010 None < 0.001 1 2019 2019
CUI: C4724572
Disease: Obstructive apnea
Obstructive apnea 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea 		disease Disease or Syndrome 17 3 0.010 None 1.000 1 2019 2019
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239676
Disease: High forehead
High forehead 		phenotype Finding 211 17 0.100 None 0
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		phenotype Finding 216 16 0.100 None 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		phenotype Finding 391 49 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		phenotype Finding 10 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype Congenital Abnormality 79 8 0.100 None 0