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: C3809482
Disease: MYOPIA 23, AUTOSOMAL RECESSIVE
MYOPIA 23, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 3 0.700 moderate 1.000 4 3 1992 2016
CUI: C4751232
Disease: Rare isolated myopia
Rare isolated myopia 		disease Disease or Syndrome 1 1 0.100 None 1.000 3 1 2013 2016
CUI: C2585575
Disease: Recurrent abdominal pain
Recurrent abdominal pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 4 2 0.010 None 1.000 1 1995 1995
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		phenotype Finding 4 1 0.100 None 0
CUI: C2609282
Disease: Reticular pseudodrusen
Reticular pseudodrusen 		disease Disease or Syndrome 10 10 0.010 None 1.000 1 2013 2013
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 25 7 0.010 None 1.000 1 2020 2020
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 40 10 0.010 None 1.000 1 2007 2007
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		disease Musculoskeletal Diseases Disease or Syndrome 44 11 0.010 None 1.000 1 2006 2006
CUI: C1609524
Disease: ADHF
ADHF 		disease Disease or Syndrome 46 0.010 None 1.000 1 2018 2018
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 48 31 0.020 None 1.000 2 2006 2006
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 51 314 0.010 None 1.000 1 2018 2018
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None 1.000 1 2006 2006
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.010 None 1.000 1 2017 2017
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 62 78 0.010 None 1.000 1 2002 2002
CUI: C4551463
Disease: Colon adenoma
Colon adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 63 1 0.010 None 1.000 1 2003 2003
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		disease Eye Diseases Disease or Syndrome 85 81 0.010 None 1.000 1 2013 2013
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 38 0.010 None 1.000 1 2015 2015
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease Cardiovascular Diseases Disease or Syndrome 154 0.010 None 1.000 1 2019 2019
CUI: C0750952
Disease: Biliary Tract Cancer
Biliary Tract Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 167 11 0.010 None 1.000 1 2011 2011
CUI: C0271183
Disease: Severe myopia
Severe myopia 		disease Eye Diseases Disease or Syndrome 184 116 0.120 None 1.000 2 2013 2014
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 184 59 0.010 None < 0.001 1 2001 2001
CUI: C0026277
Disease: Mixed Salivary Gland Tumor
Mixed Salivary Gland Tumor 		disease Neoplasms Neoplastic Process 185 3 0.010 None < 0.001 1 1990 1990
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.010 None 1.000 1 2017 2017
CUI: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 197 33 0.200 None 1.000 2 1995 1995