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: C3280205
Disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 		disease Disease or Syndrome 1 0.510 moderate 1.000 3 2002 2020
CUI: C4016816
Disease: RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS
RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVASCULAR PULMONIC STENOSIS 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4476725
Disease: Retinal arterial macroaneurysms
Retinal arterial macroaneurysms 		phenotype Acquired Abnormality 2 0.100 None 0
CUI: C0152088
Disease: Traumatic spondylopathy
Traumatic spondylopathy 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0559460
Disease: Adrenal neuroblastoma
Adrenal neuroblastoma 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2009 2009
CUI: C1998083
Disease: Inflammatory acne
Inflammatory acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C0581377
Disease: Decompensated cardiac failure
Decompensated cardiac failure 		disease Cardiovascular Diseases Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		disease Eye Diseases Disease or Syndrome 12 2 0.100 None 0
CUI: C4288892
Disease: Infant Acute Undifferentiated Leukemia
Infant Acute Undifferentiated Leukemia 		disease Neoplastic Process 14 0.010 None 1.000 1 2013 2013
CUI: C0034089
Disease: Pulmonary Valve Stenosis
Pulmonary Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome; Anatomical Abnormality 16 2 0.010 None 1.000 1 2011 2011
CUI: C4082764
Disease: Gastrointestinal infection
Gastrointestinal infection 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 17 0.010 None 1.000 1 2002 2002
CUI: C1561989
Disease: Limbal stem cell deficiency
Limbal stem cell deficiency 		disease Eye Diseases Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom 21 7 0.030 None 1.000 3 2018 2019
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus 		disease Neoplasms Neoplastic Process 21 0.010 None 1.000 1 2010 2010
CUI: C0028841
Disease: Ocular Hypotension
Ocular Hypotension 		disease Eye Diseases Disease or Syndrome 22 1 0.010 None 1.000 1 2017 2017
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 0.010 None 1.000 1 2019 2019
CUI: C1300127
Disease: Perivascular Epithelioid Cell Neoplasms
Perivascular Epithelioid Cell Neoplasms 		group Neoplasms Neoplastic Process 31 0.010 None 1.000 1 2009 2009
CUI: C4518356
Disease: MiT family translocation renal cell carcinoma
MiT family translocation renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 33 0.020 None 1.000 2 2013 2017
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 2013 2013
CUI: C0078911
Disease: AIDS-Associated Nephropathy
AIDS-Associated Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 45 1 0.010 None 1.000 1 2010 2010
CUI: C1609524
Disease: ADHF
ADHF 		disease Disease or Syndrome 46 0.010 None 1.000 1 2017 2017
CUI: C2960127
Disease: Heart failure with normal ejection fraction
Heart failure with normal ejection fraction 		disease Cardiovascular Diseases Disease or Syndrome 47 0.010 None 1.000 1 2018 2018
CUI: C0265673
Disease: Congenital kyphosis
Congenital kyphosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 54 0.010 None 1.000 1 2018 2018
CUI: C0040411
Disease: Tongue Neoplasms
Tongue Neoplasms 		group Neoplasms; Stomatognathic Diseases Neoplastic Process 62 0.010 None 1.000 1 2015 2015
CUI: C0155094
Disease: Corneal pannus
Corneal pannus 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 66 0.010 None 1.000 1 2019 2019