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.
Abnormal fear/anxiety-related behavior
disease Mental or Behavioral Dysfunction 5 7 0.100 None 0 7
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve
phenotype Finding 18 11 0.100 None 0 1
CUI: C4317146
Disease: Acid reflux
Acid reflux
phenotype Finding 50 58 0.100 None 0 4
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
phenotype Behavior and Behavior Mechanisms Individual Behavior 176 22 0.100 None 0 6
CUI: C0002418
Disease: Amblyopia
Amblyopia
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0 4
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0 1
CUI: C0004106
Disease: Astigmatism
Astigmatism
disease Eye Diseases Disease or Syndrome 148 45 0.100 None 0 1
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0 6
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0 6
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.010 None 1.000 1 2018 2018
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0 1
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0 1
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: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0 4
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2017 2017
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2018 2018
CUI: C1859846
Disease: Childhood-onset truncal obesity
Childhood-onset truncal obesity
phenotype Finding 11 4 0.100 None 0 2
CUI: C0008489
Disease: Chorea
Chorea
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 168 20 0.100 None 0 1
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0 1
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.100 None 0 5
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.300 None 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.100 None 0 1