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.
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 17
phenotype Finding 1 1 0.400 None 0 1
CUI: C0152256
Disease: Disuse osteoporosis
Disuse osteoporosis
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 13 0.010 None 1.000 1 2017 2017
CUI: C0206115
Disease: WAGR Syndrome
WAGR Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 13 11 0.010 None 1.000 1 2014 2014
CUI: C0042344
Disease: Varicose Ulcer
Varicose Ulcer
disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2020 2020
CUI: C0003076
Disease: Aniridia
Aniridia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 83 29 0.010 None 1.000 1 2014 2014
CUI: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures
group Wounds and Injuries Disease or Syndrome 108 40 0.010 None 1.000 1 1 2013 2013
CUI: C0266999
Disease: Vesicular Stomatitis
Vesicular Stomatitis
disease Infections; Stomatognathic Diseases; Animal Diseases Disease or Syndrome 112 0.010 None 1.000 1 2017 2017
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 1 1 2018 2018
CUI: C1512981
Disease: Mammary Tumorigenesis
Mammary Tumorigenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 162 5 0.010 None 1.000 1 2018 2018
CUI: C0346429
Disease: Multiple malignancy
Multiple malignancy
phenotype Neoplasms Neoplastic Process 163 3 0.010 None 1.000 1 2013 2013
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.010 None 1.000 1 2017 2017
CUI: C1519346
Disease: Skin Carcinogenesis
Skin Carcinogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 194 7 0.010 None 1.000 1 2016 2016
Prostatic Intraepithelial Neoplasias
disease Neoplasms Neoplastic Process 230 0.010 None 1.000 1 2017 2017
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.010 None 1.000 1 2017 2017
CUI: C0030354
Disease: Papilloma
Papilloma
disease Neoplasms Neoplastic Process 273 27 0.010 None 1.000 1 2016 2016
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2019 2019
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 377 8 0.010 None 1.000 1 2016 2016
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 462 2 0.010 None 1.000 1 2019 2019
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 1.000 1 1 2017 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2014 2014
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 1 1 2019 2019
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections
group Infections; Skin and Connective Tissue Diseases Disease or Syndrome 645 11 0.010 None 1.000 1 2017 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease Eye Diseases Disease or Syndrome 770 198 0.200 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.010 None 1.000 1 2016 2016