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: C0279068
Disease: Childhood Solid Neoplasm
Childhood Solid Neoplasm 		phenotype Neoplastic Process 169 3 0.010 None 1.000 1 2017 2017
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2011 2011
CUI: C0406709
Disease: Hay-Wells syndrome
Hay-Wells syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 26 11 0.010 None 1.000 1 2019 2019
CUI: C0406810
Disease: Carney Complex
Carney Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.010 None 1.000 1 2018 2018
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.010 None 1.000 1 2017 2017
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear 		disease Mental or Behavioral Dysfunction 51 0.010 None 1.000 1 2017 2017
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		disease Mental Disorders Mental or Behavioral Dysfunction 56 5 0.010 None 1.000 1 2017 2017
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 55 8 0.010 None 1.000 1 2011 2011
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
Progressive pseudorheumatoid dysplasia 		disease Musculoskeletal Diseases Congenital Abnormality 64 27 0.010 None 1.000 1 2019 2019
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.010 None 1.000 1 2008 2008
CUI: C0520678
Disease: Postpartum psychosis
Postpartum psychosis 		disease Mental Disorders Mental or Behavioral Dysfunction 19 0.010 None 1.000 1 2000 2000
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2005 2005
CUI: C0403397
Disease: Steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 73 25 0.010 None 1.000 1 2006 2006
CUI: C0403396
Disease: Steroid-sensitive nephrotic syndrome
Steroid-sensitive nephrotic syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 36 11 0.010 None 1.000 1 2 2008 2008
CUI: C0349489
Disease: Fetal Hypoxia
Fetal Hypoxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 21 2 0.010 None 1.000 1 2017 2017
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm 		group Neoplastic Process 163 3 0.010 None 1.000 1 2017 2017
CUI: C0280302
Disease: Squamous cell carcinoma of lip
Squamous cell carcinoma of lip 		disease Neoplasms; Skin and Connective Tissue Diseases; Stomatognathic Diseases Neoplastic Process 32 2 0.010 None 1.000 1 2018 2018
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 2009 2009
CUI: C0282666
Disease: Very Low Birth Weight
Very Low Birth Weight 		phenotype Sign or Symptom 42 2 0.010 None 1.000 1 2017 2017
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2019 2019
CUI: C0314719
Disease: Dryness of eye
Dryness of eye 		phenotype Eye Diseases Sign or Symptom 149 1 0.010 None 1.000 1 2019 2019
CUI: C0332601
Disease: Cushingoid facies
Cushingoid facies 		phenotype Endocrine System Diseases Sign or Symptom 6 1 0.010 None < 0.001 1 2000 2000
CUI: C0334663
Disease: Histiocytic sarcoma
Histiocytic sarcoma 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 69 8 0.010 None 1.000 1 1994 1994
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.010 None 1.000 1 2010 2010
CUI: C0349218
Disease: Recurrent depressive disorder
Recurrent depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 29 9 0.010 None 1.000 1 1 2013 2013