Source: BEFREE ×
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: C1960539
Disease: Aromatase deficiency
Aromatase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 6 4 0.800 None 1.000 12 4 1993 2019
CUI: C1970109
Disease: AROMATASE EXCESS SYNDROME
AROMATASE EXCESS SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 14 0.800 limited 1.000 11 1998 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1031 207 0.600 None 0.956 86 4 1996 2020
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 811 307 0.600 None 0.915 42 6 1993 2020
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 895 168 0.500 None 0.943 34 2 1995 2020
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease Digestive System Diseases Disease or Syndrome 757 35 0.430 None 1.000 3 2002 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1053 67 0.430 None 1.000 3 2002 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6481 2154 0.400 None 0.980 687 17 1993 2020
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6500 2145 0.400 None 0.978 650 16 1993 2020
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2140 78 0.400 None 1.000 69 1993 2019
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4264 861 0.400 None 1.000 30 6 1996 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6345 327 0.400 None 1.000 21 1999 2019
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 132 4 0.400 None 0.933 13 2002 2019
CUI: C0853662
Disease: Oestrogen deficiency
Oestrogen deficiency 		disease Disease or Syndrome 85 1 0.400 None 1.000 12 1 2004 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		group Neoplasms Neoplastic Process 2080 167 0.340 None 0.800 4 1 2001 2014
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 18 0.340 None 1.000 4 1997 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 419 120 0.320 None 1.000 2 2 2006 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 864 217 0.310 None 1.000 1 2011 2011
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome 		disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 66 5 0.310 None 1.000 1 2011 2011
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 31 0.310 None 1.000 1 2004 2010
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 608 206 0.310 None 1.000 1 2010 2017
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 78 18 0.310 None 1.000 1 1997 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 1973 871 0.260 None 0.857 5 2 1993 2017
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1109 208 0.220 None 0.667 2 2012 2019
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 452 18 0.220 None 1.000 2 1998 2015