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: C4225381
Disease: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS 		disease Disease or Syndrome 3 3 0.100 None 0 1
CUI: C0040560
Disease: Toxoplasmosis, Congenital
Toxoplasmosis, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 12 6 0.010 None 1.000 1 2010 2010
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy 		disease Disease or Syndrome 15 2 0.010 None 1.000 1 2015 2015
CUI: C0237653
Disease: Immunologic hypersensitivity
Immunologic hypersensitivity 		phenotype Pathologic Function 16 0.100 None 0
CUI: C0085582
Disease: Retrobulbar Neuritis
Retrobulbar Neuritis 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C4025758
Disease: Abnormal myocardium morphology
Abnormal myocardium morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 19 0.100 None 0
CUI: C0268790
Disease: Renal vascular disorder
Renal vascular disorder 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 22 6 0.010 None 1.000 1 2019 2019
CUI: C0029191
Disease: Orchitis
Orchitis 		phenotype Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 30 0.100 None 0
CUI: C0151942
Disease: Arterial thrombosis
Arterial thrombosis 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 33 1 0.100 None 0
CUI: C0085660
Disease: Aseptic necrosis
Aseptic necrosis 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 41 0.100 None 0
CUI: C3887513
Disease: Avascular necrosis
Avascular necrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C4553018
Disease: Avascular Necrosis, CTCAE
Avascular Necrosis, CTCAE 		phenotype Finding 41 0.100 None 0
CUI: C3495919
Disease: Enthesitis-Related Arthritis
Enthesitis-Related Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 42 2 0.020 None 0.500 2 1 2011 2017
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate 		phenotype Respiratory Tract Diseases Finding 43 0.100 None 0
CUI: C0031046
Disease: Pericarditis
Pericarditis 		disease Cardiovascular Diseases Disease or Syndrome 51 6 0.100 None 0
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		disease Eye Diseases Disease or Syndrome 53 20 0.100 None 1.000 1 1 2015 2015
CUI: C1336905
Disease: Endometrial Endometrioid Adenocarcinoma
Endometrial Endometrioid Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 53 0.010 None 1.000 1 2005 2005
CUI: C0014118
Disease: Endocarditis
Endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 56 0.100 None 0
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 60 4 0.020 None 1.000 2 2017 2019
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.020 None 1.000 2 2015 2015
CUI: C0019079
Disease: Hemoptysis
Hemoptysis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 67 1 0.100 None 0
CUI: C0017086
Disease: Gangrene
Gangrene 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.100 None 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		disease Nervous System Diseases Finding 72 1 0.100 None 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 73 5 0.100 None 0
CUI: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		disease Skin and Connective Tissue Diseases Disease or Syndrome 74 1 0.300 None 1.000 4 2010 2014