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: C3151303
Disease: Obesity, Hyperphagia, and Developmental Delay
Obesity, Hyperphagia, and Developmental Delay 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 2 3 0.300 limited 0
CUI: C2973527
Disease: Dentinogenesis imperfecta without osteogenesis imperfecta
Dentinogenesis imperfecta without osteogenesis imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 3 6 0.020 None 1.000 2 1998 2006
CUI: C0399378
Disease: Dentinogenesis imperfecta - Shield's type III (disorder)
Dentinogenesis imperfecta - Shield's type III (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2017 2017
CUI: C1839840
Disease: MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE
MALE PSEUDOHERMAPHRODITISM: DEFICIENCY OF TESTICULAR 17,20-DESMOLASE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 3 5 0.700 limited 1.000 1 4 2011 2011
CUI: C0027661
Disease: Neoplasms, Hormone-Dependent
Neoplasms, Hormone-Dependent 		phenotype Neoplasms Neoplastic Process 4 0.300 None 1.000 1 2015 2015
CUI: C2930618
Disease: Intersex Conditions
Intersex Conditions 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 9 0.300 None 1.000 1 2015 2015
CUI: C0042131
Disease: Uterine Diseases
Uterine Diseases 		group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 10 1 0.010 None < 0.001 1 2012 2012
CUI: C3658266
Disease: Prostatic Cancer, Castration-Resistant
Prostatic Cancer, Castration-Resistant 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 12 0.010 None 1.000 1 2010 2010
CUI: C4022995
Disease: Sex reversal
Sex reversal 		phenotype Finding 14 0.100 None 0
CUI: C0011430
Disease: Dentin Dysplasia
Dentin Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2017 2017
CUI: C0033804
Disease: Pseudohermaphroditism
Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 16 19 0.300 None 1.000 1 2015 2015
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 34 0.300 None 1.000 1 2015 2015
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.020 None 1.000 2 2006 2017
CUI: C0036875
Disease: Disorders of Sex Development
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 39 6 0.300 None 1.000 1 2015 2015
CUI: C0238395
Disease: Male Pseudohermaphroditism
Male Pseudohermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 4 0.100 None 0
CUI: C1258085
Disease: Barrett Epithelium
Barrett Epithelium 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 52 0.010 None 1.000 1 2008 2008
CUI: C0011880
Disease: Diabetic Ketoacidosis
Diabetic Ketoacidosis 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 63 3 0.010 None 1.000 1 2019 2019
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity 		phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 None 1.000 1 2015 2015
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 2009 2009
CUI: C2930619
Disease: Sex Differentiation Disorders
Sex Differentiation Disorders 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 103 10 0.300 None 1.000 1 2015 2015
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 0.400 None 1.000 1 2015 2015
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 110 3 0.300 None 1.000 1 2015 2015
CUI: C0043094
Disease: Weight Gain
Weight Gain 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 12 0.300 None 1.000 1 2014 2014
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2009 2009
CUI: C1136382
Disease: Sclerocystic Ovaries
Sclerocystic Ovaries 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 144 0.300 None 1.000 1 2012 2012