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: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		disease Finding 40 2 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.030 None 1.000 3 2001 2008
CUI: C4023915
Disease: Abnormally low-pitched voice
Abnormally low-pitched voice 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C1860825
Disease: Accelerated bone age after puberty
Accelerated bone age after puberty 		phenotype Finding 2 0.100 None 0
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		group Infections Disease or Syndrome 145 0.010 None 1.000 1 2015 2015
CUI: C0281328
Disease: Adult Subependymoma
Adult Subependymoma 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535 0.100 None 1.000 1 1 2019 2019
CUI: C0002170
Disease: Alopecia
Alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.110 None 1.000 2 1 2013 2017
CUI: C0002171
Disease: Alopecia Areata
Alopecia Areata 		disease Skin and Connective Tissue Diseases Disease or Syndrome 114 54 0.100 None 0 1
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma 		disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2005 2005
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms 		phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2005 2005
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible 		phenotype Anatomical Abnormality 19 1 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0344511
Disease: Atresia of nasolacrimal duct
Atresia of nasolacrimal duct 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 1 0.100 None 0 1
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0 1
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 23 0.100 None 0
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		disease Neoplasms Neoplastic Process 64 109 0.100 None 1.000 1 1 2019 2019
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 1 1 2019 2019
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 1 1 2019 2019
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2004 2004
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		phenotype Finding 65 1 0.100 None 0
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 2 2 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 2 5 2019 2019
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		group Musculoskeletal Diseases Disease or Syndrome 317 10 0.010 None 1.000 1 2002 2002