Source: ALL
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: C0236379
Disease: ESTRONE MEASUREMENT
ESTRONE MEASUREMENT 		phenotype Laboratory Procedure 5 7 0.100 None 1.000 1 2 2018 2018
CUI: C0271528
Disease: Isosexual precocious puberty
Isosexual precocious puberty 		phenotype Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2001 2001
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: 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 13 0.800 None 1.000 16 13 1993 2019
CUI: C0154209
Disease: Hyperestrogenism
Hyperestrogenism 		disease Disease or Syndrome 6 0.060 None 1.000 6 2003 2019
CUI: C0032796
Disease: Postpartum Amenorrhea
Postpartum Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 1993 1993
CUI: C0406670
Disease: Vulvodynia
Vulvodynia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C2315209
Disease: Idiopathic gynecomastia
Idiopathic gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 6 0.010 None 1.000 1 2005 2005
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 6 1 0.010 None 1.000 1 2015 2015
CUI: C3274639
Disease: Neonatal Opiate Withdrawal Syndrome
Neonatal Opiate Withdrawal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Mental or Behavioral Dysfunction 6 0.010 None 1.000 1 2019 2019
CUI: C0039520
Disease: Tenosynovitis
Tenosynovitis 		disease Musculoskeletal Diseases Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0025319
Disease: Menopausal syndrome
Menopausal syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C0278485
Disease: Carcinoma breast stage I
Carcinoma breast stage I 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		disease Disease or Syndrome 8 7 0.010 None 1.000 1 2017 2017
CUI: C2936351
Disease: Fibroatheroma
Fibroatheroma 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 8 0.010 None 1.000 1 2001 2001
CUI: C0013394
Disease: Dyspareunia (female)
Dyspareunia (female) 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 0.030 None 1.000 3 2017 2019
CUI: C0202022
Disease: Follicle stimulating hormone measurement
Follicle stimulating hormone measurement 		phenotype Laboratory Procedure 9 12 0.100 None 1.000 1 2 2013 2013
CUI: C0474496
Disease: Diarrhea and vomiting, symptom
Diarrhea and vomiting, symptom 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 9 0.010 None 1.000 1 2018 2018
CUI: C1306242
Disease: Aggressive angiomyxoma
Aggressive angiomyxoma 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2019 2019
CUI: C1868851
Disease: Pulmonary arterial hypertension associated with portal hypertension
Pulmonary arterial hypertension associated with portal hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2009 2009
CUI: C0042131
Disease: Uterine Diseases
Uterine Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 10 1 0.030 None 0.667 3 2001 2005
CUI: C2678045
Disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 10 3 0.020 None 1.000 2 2017 2019
CUI: C0005974
Disease: Bone Resorption
Bone Resorption 		phenotype Musculoskeletal Diseases Organ or Tissue Function 10 0.300 None 1.000 1 2002 2002
CUI: C0158447
Disease: Idiopathic osteoporosis
Idiopathic osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 10 0.010 None 1.000 1 2004 2004