CEP63, centrosomal protein 63, 80254

N. diseases: 53; N. variants: 8
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: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.500 strong 1 2011 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 moderate 2 2011 2016
Autosomal Recessive Primary Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 26 7 0.310 1.000 1 2011 2011
CUI: C3553582
Disease: SECKEL SYNDROME 6
SECKEL SYNDROME 6
disease Disease or Syndrome 3 2 0.300 2 2 2011 2015
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 2 2011 2015
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality; Disease or Syndrome 32 0.300 1 2011 2011
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.300 limited 1 2011 2011
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 32 0.300 1 2011 2011
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 29 12 0.200 0
Congenital malformation syndromes associated with short stature
disease Disease or Syndrome 5 0.200 0
CUI: C0265205
Disease: Robinow Syndrome
Robinow Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases Disease or Syndrome 14 11 0.200 0
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.200 0
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 3 0.200 0
CUI: C3151187
Disease: SECKEL SYNDROME 5
SECKEL SYNDROME 5
disease Disease or Syndrome 4 3 0.200 0
CUI: C3553870
Disease: SECKEL SYNDROME 7
SECKEL SYNDROME 7
disease Disease or Syndrome 4 3 0.200 0
CUI: C3888212
Disease: SECKEL SYNDROME 4
SECKEL SYNDROME 4
disease Disease or Syndrome 3 11 0.200 0
CUI: C3891452
Disease: SECKEL SYNDROME 8
SECKEL SYNDROME 8
disease Disease or Syndrome 4 1 0.200 0
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 35 0.200 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 60 129 0.200 0
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 118 3 0.200 0
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 54 9 0.200 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 71 7 0.200 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 13 14 0.200 0
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 313 807 0.100 1 1 2008 2008
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 203 5 0.100 0