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: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.100 None 0
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.100 None 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 53 6 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.100 None 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		phenotype Endocrine System Diseases Pathologic Function 196 21 0.100 None 0
CUI: C0151639
Disease: Decreased fertility in females
Decreased fertility in females 		phenotype Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Finding 23 0.100 None 0
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.100 None 0
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.100 None 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 63 2 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle 		phenotype Finding 129 0.100 None 0
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		phenotype Finding 33 0.100 None 0
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.020 None 1.000 2 2010 2018
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 34 2 0.020 None 1.000 2 2009 2010
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.020 None 1.000 2 2003 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.020 None 1.000 2 2014 2016
CUI: C0205851
Disease: Germ cell tumor
Germ cell tumor 		disease Neoplasms Neoplastic Process 278 5 0.010 None 1.000 1 2016 2016
CUI: C3900101
Disease: Adult Germ Cell Tumor
Adult Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2016 2016
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 2011 2011
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 1999 1999
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2018 2018
CUI: C0338596
Disease: Spastic cerebral palsy
Spastic cerebral palsy 		disease Nervous System Diseases Disease or Syndrome; Congenital Abnormality 13 0.010 None 1.000 1 2018 2018
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2016 2016