CEP63, centrosomal protein 63, 80254

N. diseases: 44; N. variants: 15
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: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.200 None 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology
disease Anatomical Abnormality 41 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
Autosomal Recessive Primary Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 33 99 0.310 None 1.000 1 2011 2011
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 2 2008 2008
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell
disease Neoplasms Neoplastic Process 623 12 0.010 None 1.000 1 2005 2005
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.200 None 0
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: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 48 3 0.200 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 32 0.310 limited 1.000 1 2 2015 2015
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 427 32 0.100 None 0
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: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 15 2 2004 2015
CUI: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia
phenotype Finding 30 1 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: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 1 2008 2008
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2011 2011
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.600 strong 1.000 2 2011 2015
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 1 2011 2011
CUI: C0266491
Disease: Neuronal heterotopia
Neuronal heterotopia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 67 3 0.100 None 0