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: C0543837
Disease: Respiratory distress syndrome, children
Respiratory distress syndrome, children 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4724572
Disease: Obstructive apnea
Obstructive apnea 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4021030
Disease: Type III lissencephaly
Type III lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 2 0.100 None 0 2
CUI: C0031880
Disease: Obesity Hypoventilation Syndrome
Obesity Hypoventilation Syndrome 		disease Nutritional and Metabolic Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 2 0.030 None 1.000 3 2017 2020
CUI: C0858259
Disease: Nasal discomfort
Nasal discomfort 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2018 2018
CUI: C3150931
Disease: Steep acetabular roof
Steep acetabular roof 		phenotype Finding 2 0.100 None 0
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5 		disease Disease or Syndrome 2 6 0.100 None 0 1
CUI: C1842109
Disease: Microcephaly, Primary Autosomal Recessive, 6
Microcephaly, Primary Autosomal Recessive, 6 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 11 0.710 strong 1.000 5 11 2005 2011
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: C0017650
Disease: Globus Hystericus
Globus Hystericus 		phenotype Mental Disorders Sign or Symptom 3 0.010 None 1.000 1 2018 2018
CUI: C0271468
Disease: Eustachian tube disorder
Eustachian tube disorder 		group Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C2675187
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder)
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 7 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 6 0.010 None 1.000 1 2010 2010
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: C0796279
Disease: Carnevale syndrome
Carnevale syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 4 2 0.020 None 1.000 2 2017 2018
CUI: C3279675
Disease: Perisylvian polymicrogyria
Perisylvian polymicrogyria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 5 3 0.100 None 0 2
CUI: C0393761
Disease: Middle insomnia
Middle insomnia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2018 2018
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 19 0.100 None 0 1
CUI: C1837503
Disease: Small cerebral cortex
Small cerebral cortex 		phenotype Finding 8 1 0.100 None 0
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.200 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		phenotype Finding 10 0.100 None 0
CUI: C0001311
Disease: Acute bronchiolitis
Acute bronchiolitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2018 2018
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.200 None 0
CUI: C1849364
Disease: Absent earlobe
Absent earlobe 		phenotype Congenital Abnormality 14 1 0.100 None 0
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