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: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.110 None 1.000 1 1 2000 2000
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		phenotype Organism Attribute 565 1138 0.100 None 1.000 3 2 2018 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 3 3 2017 2019
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C0028960
Disease: Oligospermia
Oligospermia 		disease Male Urogenital Diseases Disease or Syndrome 217 72 0.100 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C1859979
Disease: Precocious puberty in males
Precocious puberty in males 		phenotype Endocrine System Diseases Finding 5 3 0.100 None 0 2
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C4016252
Disease: LEYDIG HYPOPLASIA, TYPE I
LEYDIG HYPOPLASIA, TYPE I 		disease Finding 3 1 0.100 None 0 1
CUI: C2674612
Disease: Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 3 1 0.100 None 0 1
CUI: C0269011
Disease: Increased size of penis
Increased size of penis 		phenotype Male Urogenital Diseases Finding 12 0.100 None 0
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		disease Finding 16 0.100 None 0
CUI: C0241240
Disease: Tall stature
Tall stature 		phenotype Finding 79 14 0.100 None 0
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C4023702
Disease: Hyoplasia of the Leydig cells
Hyoplasia of the Leydig cells 		phenotype Finding 3 1 0.100 None 0 1
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.090 None 1.000 9 1 1996 2013
CUI: C4521591
Disease: Peripheral precocious puberty
Peripheral precocious puberty 		disease Endocrine System Diseases Disease or Syndrome 5 0.060 None 1.000 6 1995 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.040 None 0.750 4 2006 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.040 None 1.000 4 2000 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.040 None 1.000 4 2000 2017
CUI: C1328577
Disease: Empty follicle syndrome
Empty follicle syndrome 		disease Disease or Syndrome 14 1 0.030 None 1.000 3 2011 2019
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.030 None 1.000 3 2000 2010
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 1224 129 0.030 None 1.000 3 2000 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 1995 2005