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: C4025825
Disease: Abnormal external genitalia
Abnormal external genitalia
disease Anatomical Abnormality 3 0.100 None 0
Abnormality of cardiovascular system morphology
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4020917
Disease: Absent fifth fingernail
Absent fifth fingernail
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail
phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 19 0.100 None 0
CUI: C4022849
Disease: Absent thumbnail
Absent thumbnail
phenotype Finding 15 0.100 None 0
CUI: C1844555
Disease: Absent toenail
Absent toenail
phenotype Pathological Conditions, Signs and Symptoms Congenital Abnormality 11 0.100 None 0
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.010 None 1.000 1 2019 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2016 2016
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA
disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C0266060
Disease: Anterior open bite
Anterior open bite
disease Stomatognathic Diseases Anatomical Abnormality 13 0.100 None 0
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.100 None 0
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip
phenotype Finding 10 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.620 None 1.000 3 1 2014 2019
CUI: C1857539
Disease: Deep palmar crease
Deep palmar crease
phenotype Finding 23 8 0.100 None 0
CUI: C1839797
Disease: Deep philtrum
Deep philtrum
phenotype Finding 42 5 0.100 None 0
CUI: C1857953
Disease: Deep plantar creases
Deep plantar creases
phenotype Finding 19 6 0.100 None 0
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.300 None 1.000 1 2009 2009
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 1 2016 2016
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.010 None 1.000 1 1 2016 2016