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: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 77 64 1.000 0.940 235 50 1970 2018
CUI: C0268301
Disease: Reifenstein Syndrome
Reifenstein Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 30 0.800 0.967 92 30 1984 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.700 0.980 1421 17 1985 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.600 0.940 153 2 1990 2018
CUI: C0936016
Disease: Testicular Feminization
Testicular Feminization
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 13 3 0.600 0.958 81 2 1970 2018
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate
disease Neoplastic Process 215 96 0.600 0.900 11 2003 2016
CUI: C2678098
Disease: Hypospadias 1, X-Linked
Hypospadias 1, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 3 0.600 2 2 1993 1996
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.520 1.000 5 1999 2018
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 62 8 0.500 0.983 186 4 1990 2018
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 59 745 0.500 0.857 15 12 2005 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.400 0.970 234 2 1990 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 0.941 155 1990 2018
CUI: C0752353
Disease: Atrophy, Muscular, Spinobulbar
Atrophy, Muscular, Spinobulbar
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 14 1 0.400 0.979 48 1993 2015
CUI: C0021364
Disease: Male infertility
Male infertility
disease Male Urogenital Diseases Disease or Syndrome 262 72 0.400 0.947 40 3 1996 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 0.957 37 1 1990 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.400 1.000 24 1991 2017
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 57 19 0.400 1.000 18 3 1993 2018
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 30 2 0.400 0.909 11 1 2001 2015
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 215 20 0.390 0.889 10 1 2000 2014
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.390 0.800 10 1994 2014
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.390 0.800 10 1994 2014
Prostatic Intraepithelial Neoplasias
disease Neoplasms Neoplastic Process 173 0.370 1.000 8 1996 2014
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
disease Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 440 82 0.360 1.000 7 2003 2015
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy
disease Nervous System Diseases Disease or Syndrome 5 0.350 1.000 5 1990 2011
Bulbospinal neuronopathy, X-linked recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.350 0.800 5 1992 1999