Source: CURATED ×
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: C0878684
Disease: SHORT syndrome
SHORT syndrome
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 12 0.800 definitive 0.955 7 12 2000 2019
AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 5 0.600 None 1.000 2 5 2012 2017
CUI: C4014934
Disease: IMMUNODEFICIENCY 36
IMMUNODEFICIENCY 36
disease Disease or Syndrome 1 7 0.600 None 1.000 2 7 2012 2018
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
phenotype Nutritional and Metabolic Diseases Pathologic Function 60 53 0.600 None 1.000 1 1999 2003
CUI: C0001768
Disease: Agammaglobulinemia
Agammaglobulinemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 12 1 0.410 strong 1.000 1 2012 2014
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 22 8 0.400 strong 1.000 1 2018 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 128 202 0.400 None 0.923 0 2001 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 616 281 0.350 None 1.000 2 2010 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 111 31 0.350 None 0.800 0 2004 2012
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Neoplasms; Male Urogenital Diseases Neoplastic Process 616 1 0.330 None 1.000 2 2003 2018
CUI: C3714976
Disease: ACTIVATED PI3K-DELTA SYNDROME
ACTIVATED PI3K-DELTA SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 4 0.330 None 1.000 1 2014 2017
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 164 15 0.320 None 1.000 1 2003 2018
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 87 97 0.320 None 1.000 0 2017 2019
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 268 231 0.310 None 1.000 2 2008 2009
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 137 78 0.310 None 1.000 0 2019 2019
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal
disease Neoplasms; Animal Diseases Neoplastic Process 142 0.300 None 1.000 1 2003 2003
CUI: C1832241
Disease: Agammaglobulinemia, non-Bruton type
Agammaglobulinemia, non-Bruton type
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 8 0.300 None 1.000 1 2012 2012
CUI: C0920563
Disease: Insulin Sensitivity
Insulin Sensitivity
phenotype Nutritional and Metabolic Diseases Pathologic Function 60 0.300 None 1.000 1 2003 2003
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 41 10 0.300 strong 1.000 1 2014 2014
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2012 2012
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 5 0.300 None 1.000 1 2012 2012
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 142 0.300 None 1.000 1 2003 2003
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 155 0.300 None 1.000 1 2003 2003
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 17 171 0.300 None 1.000 1 2017 2017
CUI: C4721444
Disease: Burkitt Leukemia
Burkitt Leukemia
disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 None 1.000 1 2012 2012