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: C0265255
Disease: Trichorhinophalangeal syndrome
Trichorhinophalangeal syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 6 1 0.020 None 1.000 2 2010 2011
CUI: C0221018
Disease: Hereditary sideroblastic anemia
Hereditary sideroblastic anemia 		disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2014 2014
CUI: C1849930
Disease: Persistent Mullerian duct syndrome
Persistent Mullerian duct syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality 9 16 0.010 None 1.000 1 2019 2019
CUI: C1142276
Disease: Renal anemia
Renal anemia 		disease Disease or Syndrome 12 0.010 None 1.000 1 2000 2000
CUI: C0014132
Disease: Endocrine Gland Neoplasms
Endocrine Gland Neoplasms 		group Neoplasms; Endocrine System Diseases Neoplastic Process 15 0.010 None 1.000 1 2016 2016
CUI: C4551511
Disease: X-linked sideroblastic anemia
X-linked sideroblastic anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 23 0.010 None 1.000 1 2017 2017
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 9 0.020 None 1.000 2 2001 2005
CUI: C0238067
Disease: Colitis, Collagenous
Colitis, Collagenous 		disease Digestive System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2017 2017
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease Disease or Syndrome 23 7 0.400 strong 1.000 2 4 2016 2018
CUI: C0274294
Disease: Chronic mountain sickness
Chronic mountain sickness 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 24 5 0.010 None 1.000 1 2015 2015
CUI: C0400822
Disease: Colitis, Lymphocytic
Colitis, Lymphocytic 		disease Digestive System Diseases Disease or Syndrome 25 0.010 None 1.000 1 2017 2017
CUI: C0206724
Disease: Sex Cord-Stromal Tumor
Sex Cord-Stromal Tumor 		disease Neoplasms Neoplastic Process 28 3 0.010 None 1.000 1 2016 2016
CUI: C1849699
Disease: Progesterone Resistance
Progesterone Resistance 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 29 0.010 None 1.000 1 2014 2014
CUI: C0400821
Disease: Colitis, Microscopic
Colitis, Microscopic 		disease Digestive System Diseases Disease or Syndrome 30 3 0.010 None 1.000 1 2017 2017
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.010 None 1.000 1 1995 1995
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 39 26 0.010 None 1.000 1 2010 2010
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.010 None 1.000 1 1996 1996
CUI: C0024537
Disease: Malaria, Vivax
Malaria, Vivax 		disease Infections Disease or Syndrome 60 2 0.010 None 1.000 1 2010 2010
CUI: C0266292
Disease: Congenital anomaly of the kidney
Congenital anomaly of the kidney 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 63 4 0.010 None 1.000 1 2001 2001
CUI: C0238644
Disease: Anemia, severe
Anemia, severe 		disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6 0.010 None 1.000 1 2017 2017
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 77 12 0.010 None 1.000 1 2011 2011
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 81 3 0.010 None 1.000 1 2005 2005
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.030 None 1.000 3 2001 2014
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2018 2018
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 1995 1995