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: C0241616
Disease: Atrophy of vagina
Atrophy of vagina 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1 0.020 None 1.000 2 2017 2019
CUI: C3160829
Disease: Urogenital atrophy
Urogenital atrophy 		disease Disease or Syndrome 1 0.020 None 1.000 2 2015 2017
CUI: C0521516
Disease: Polymyalgia
Polymyalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 1 0.010 None 1.000 1 2017 2017
CUI: C1960540
Disease: Placental aromatase deficiency
Placental aromatase deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 1992 1992
CUI: C3161177
Disease: Autoimmune hemophilia
Autoimmune hemophilia 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C4745240
Disease: Hormone Receptor Positive Breast Carcinoma
Hormone Receptor Positive Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0431649
Disease: Vaginal septum
Vaginal septum 		disease Congenital Abnormality 2 0.020 None 1.000 2 2006 2015
CUI: C0267785
Disease: Leiomyomatosis peritonealis disseminata
Leiomyomatosis peritonealis disseminata 		disease Digestive System Diseases; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C0271614
Disease: Residual ovary syndrome
Residual ovary syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0851535
Disease: Prostatic disorders (excl infections and inflammations)
Prostatic disorders (excl infections and inflammations) 		disease Disease or Syndrome 2 0.010 None 1.000 1 1997 1997
CUI: C1334277
Disease: Invasive Ductal and Lobular Carcinoma
Invasive Ductal and Lobular Carcinoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C4042788
Disease: Left-Sided Breast Neoplasms
Left-Sided Breast Neoplasms 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C4527413
Disease: Visceral Crisis
Visceral Crisis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4545791
Disease: Epigenetic disorder
Epigenetic disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C0238394
Disease: Female Pseudohermaphroditism
Female Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 3 0.110 None 1.000 1 1999 1999
CUI: C0271528
Disease: Isosexual precocious puberty
Isosexual precocious puberty 		phenotype Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2001 2001
CUI: C1262289
Disease: Dysmetabolic syndrome
Dysmetabolic syndrome 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2004 2004
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 3 0.010 None 1.000 1 2001 2001
CUI: C0017250
Disease: Psychosexual identity disorder
Psychosexual identity disorder 		group Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2009 2009
CUI: C0156409
Disease: Postmenopausal atrophic vaginitis
Postmenopausal atrophic vaginitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0221392
Disease: Atrophic Vaginitis
Atrophic Vaginitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C0857094
Disease: Endometriosis related pain
Endometriosis related pain 		disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1266109
Disease: Large cell calcifying Sertoli cell tumor
Large cell calcifying Sertoli cell tumor 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2006 2006
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 5 1 0.010 None 1.000 1 2015 2015
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