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: C0342138
Disease: Thyrotoxicosis in pregnancy
Thyrotoxicosis in pregnancy 		disease Endocrine System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C0334524
Disease: Mixed Germ Cell Tumor
Mixed Germ Cell Tumor 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2018 2018
CUI: C1328577
Disease: Empty follicle syndrome
Empty follicle syndrome 		disease Disease or Syndrome 14 1 0.010 None 1.000 1 2017 2017
CUI: C0342495
Disease: Macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2006 2006
CUI: C0854912
Disease: Pineal germinoma
Pineal germinoma 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2018 2018
CUI: C0206666
Disease: Trophoblastic Tumor, Placental Site
Trophoblastic Tumor, Placental Site 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 0.010 None 1.000 1 1993 1993
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 23 10 0.010 None 1.000 1 2020 2020
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.010 None 1.000 1 2006 2006
CUI: C1332221
Disease: Adult Yolk Sac Tumor
Adult Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 35 2 0.010 None 1.000 1 2013 2013
CUI: C0206660
Disease: Germinoma
Germinoma 		disease Neoplasms Neoplastic Process 38 2 0.020 None 1.000 2 2018 2019
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2000 2000
CUI: C4317091
Disease: Trisomy 18 Syndrome
Trisomy 18 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2000 2000
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 77 0.010 None 1.000 1 2020 2020
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 61 3 0.010 None 1.000 1 2019 2019
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 64 24 0.030 None 1.000 3 2002 2017
CUI: C1292754
Disease: Mediastinal (Thymic) Large B-Cell Lymphoma
Mediastinal (Thymic) Large B-Cell Lymphoma 		disease Neoplasms; Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 1 0.010 None 1.000 1 1999 1999
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 68 2 0.010 None 1.000 1 2013 2013
CUI: C0013390
Disease: Dysmenorrhea
Dysmenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 71 4 0.010 None 1.000 1 2017 2017
CUI: C0001618
Disease: Tumors of Adrenal Cortex
Tumors of Adrenal Cortex 		group Neoplasms; Endocrine System Diseases Neoplastic Process 74 5 0.010 None 1.000 1 2006 2006
CUI: C0879615
Disease: Stromal Neoplasm
Stromal Neoplasm 		disease Neoplasms Neoplastic Process 86 1 0.010 None 1.000 1 1997 1997
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.010 None 1.000 1 2006 2006
CUI: C0085648
Disease: Synovial Cyst
Synovial Cyst 		disease Neoplasms Disease or Syndrome 87 0.010 None 1.000 1 2012 2012
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 87 38 0.010 None 1.000 1 2004 2004
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 90 33 0.010 None 1.000 1 2007 2007
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.010 None 1.000 1 2009 2009