CTBP1, C-terminal binding protein 1, 1487

N. diseases: 154; N. variants: 4
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.
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
disease Disease or Syndrome 2 1 0.600 strong 1.000 3 1 2016 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.310 None 1.000 1 2006 2006
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.300 None 1.000 1 2006 2006
CUI: C1956097
Disease: Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 34 2 0.300 None 0
CUI: C0796117
Disease: Pitt-Rogers-Danks Syndrome
Pitt-Rogers-Danks Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 8 0.300 None 0
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.110 None 1.000 2 3 2016 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2016 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.110 None 1.000 1 2014 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 14 2006 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 3 1 1995 2017
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding 169 17 0.100 None 0
Small for gestational age (disorder)
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 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: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 23 7 0.100 None 0
CUI: C0265695
Disease: Congenital fusion of ribs
Congenital fusion of ribs
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 37 2 0.100 None 0
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 192 26 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation
phenotype Finding 30 5 0.100 None 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 86 11 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C0158761
Disease: Radioulnar Synostosis
Radioulnar Synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 67 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases
phenotype Finding 111 0.100 None 0