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: C4479655
Disease: MEIER-GORLIN SYNDROME 8
MEIER-GORLIN SYNDROME 8
disease Disease or Syndrome 1 2 0.400 1 2 2017 2017
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 87 112 0.310 1.000 1 2013 2013
CUI: C0036875
Disease: Disorders of Sex Development
Disorders of Sex Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 60 0.300 limited 1 2017 2017
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse
disease Mental Disorders; Substance-Related Disorders Mental or Behavioral Dysfunction 106 106 0.200 1 2013 2013
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.020 1.000 2 2002 2011
EAR, PATELLA, SHORT STATURE SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 35 13 0.020 1.000 2 2017 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.020 1.000 2 2002 2011
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.020 1.000 2 2002 2011
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 395 403 0.020 1.000 2 2005 2017
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 720 81 0.020 1.000 2 2005 2017
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
disease Neoplastic Process 152 13 0.010 1.000 1 2005 2005
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.010 1.000 1 2002 2002
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
disease Digestive System Diseases; Neoplasms Neoplastic Process 672 66 0.010 1.000 1 2004 2004
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 12 2 0.010 1.000 1 2002 2002
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplastic Process 3144 756 0.010 1.000 1 2002 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.010 1.000 1 2015 2015
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME
disease Digestive System Diseases; Neoplasms Disease or Syndrome 5 3 0.010 1.000 1 2017 2017
CUI: C0206708
Disease: Cervical Intraepithelial Neoplasia
Cervical Intraepithelial Neoplasia
disease Neoplasms Neoplastic Process 204 5 0.010 1.000 1 2005 2005
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Neoplastic Process 2089 36 0.010 1.000 1 2005 2005
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Neoplastic Process 684 223 0.010 1.000 1 2004 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.010 1.000 1 2015 2015
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
disease Neoplastic Process 504 40 0.010 1.000 1 2017 2017
CUI: C0007868
Disease: Cervical dysplasia
Cervical dysplasia
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Disease or Syndrome 26 0.010 1.000 1 2005 2005
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 777 24 0.010 1 2009 2009
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Congenital Abnormality 276 31 0.010 1.000 1 2017 2017