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.
Recurrent infections of the middle ear
disease Disease or Syndrome 1 0.100 None 0
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 133 40 0.100 None 0
CUI: C0011071
Disease: Sudden death
Sudden death
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 30 3 0.100 None 0
CUI: C0242698
Disease: Ventricular Dysfunction, Left
Ventricular Dysfunction, Left
phenotype Cardiovascular Diseases Pathologic Function 88 0.100 None 0
Abnormal cardiac ventricular function
phenotype Finding 6 0.100 None 0
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None < 0.001 1 2014 2014
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None < 0.001 1 2014 2014
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None < 0.001 1 2014 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.050 None 0.800 5 2005 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 13 2006 2019
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.320 definitive 1.000 12 2000 2018
CUI: C1832476
Disease: Deafness, Autosomal Dominant 10
Deafness, Autosomal Dominant 10
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 5 0.730 None 1.000 12 5 1999 2019
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.200 None 1.000 10 1 2000 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.470 strong 1.000 8 1999 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.540 None 1.000 5 1 2006 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.050 None 1.000 5 2014 2019
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 4 3 2017 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 3 1 2005 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 3 1 2005 2016
CUI: C0395971
Disease: Dominant sensorineural hearing loss
Dominant sensorineural hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 1 0.030 None 1.000 3 1 2007 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.030 None 1.000 3 2005 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2016 2018
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1287 272 0.020 None 1.000 2 2005 2009
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.020 None 1.000 2 2007 2016
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2013 2015