IQCJ-SCHIP1, IQCJ-SCHIP1 readthrough, 100505385

N. diseases: 14; N. variants: 14
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: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2009 2009
Iron binding capacity total measurement
phenotype Laboratory Procedure 20 35 0.100 None 1.000 1 1 2017 2017
Total iron binding capacity function
phenotype Clinical Attribute 20 35 0.100 None 1.000 1 1 2017 2017
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
phenotype Organism Function 131 1106 0.100 None 1.000 1 1 2015 2015
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 303 317 0.100 None 1.000 1 1 2018 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2009 2009
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer
disease Stomatognathic Diseases Disease or Syndrome 104 101 0.100 None 1.000 1 8 2019 2019
CUI: C0037369
Disease: Smoking
Smoking
phenotype Behavior and Behavior Mechanisms Individual Behavior 391 765 0.100 None 1.000 1 1 2015 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors
phenotype Behavior and Behavior Mechanisms Individual Behavior 249 742 0.100 None 1.000 1 1 2015 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.010 None 1.000 1 2019 2019
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2018 2018
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019