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: C1096116
Disease: Acquired haemophilia
Acquired haemophilia 		disease Disease or Syndrome 7 2 0.010 None 1.000 1 1 2008 2008
CUI: C2981352
Disease: Stage IV Lung Cancer AJCC v6
Stage IV Lung Cancer AJCC v6 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C3495928
Disease: Thyroid associated orbitopathy
Thyroid associated orbitopathy 		disease Disease or Syndrome 7 4 0.010 None 1.000 1 1999 1999
CUI: C4526725
Disease: Stage IV Lung Cancer AJCC v8
Stage IV Lung Cancer AJCC v8 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C4725093
Disease: Unresectable Melanoma
Unresectable Melanoma 		disease Neoplasms Neoplastic Process 7 3 0.010 None 1.000 1 2017 2017
CUI: C3805919
Disease: Recurrent intrapulmonary hemorrhage
Recurrent intrapulmonary hemorrhage 		phenotype Finding 7 0.100 None 0
CUI: C4728035
Disease: CTLA4 deficiency
CTLA4 deficiency 		disease Disease or Syndrome 8 0.330 strong 1.000 4 2014 2018
CUI: C0393665
Disease: Multiple Sclerosis, Chronic Progressive
Multiple Sclerosis, Chronic Progressive 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2002 2002
CUI: C0278801
Disease: Endometrial neoplasm malignant metastatic
Endometrial neoplasm malignant metastatic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 9 0.010 None 1.000 1 2020 2020
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		disease Eye Diseases Disease or Syndrome 10 10 0.010 None < 0.001 1 1 2008 2008
CUI: C0152014
Disease: Atrophy of pancreas
Atrophy of pancreas 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0276434
Disease: Acute type A viral hepatitis
Acute type A viral hepatitis 		disease Digestive System Diseases; Infections Disease or Syndrome 10 0.010 None 1.000 1 2016 2016
CUI: C1845052
Disease: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 10 4 0.010 None < 0.001 1 1 2015 2015
CUI: C0521618
Disease: Stenosis of ureter
Stenosis of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 10 0.100 None 0
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		disease Anatomical Abnormality 10 3 0.100 None 0
CUI: C4025726
Disease: Abnormality of the pleura
Abnormality of the pleura 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1272352
Disease: Deficiency of vitamin D3
Deficiency of vitamin D3 		disease Nutritional and Metabolic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2012 2012
CUI: C1844666
Disease: Immune dysregulation
Immune dysregulation 		phenotype Finding 11 1 0.300 strong 1.000 1 2014 2014
CUI: C0036416
Disease: Scleritis
Scleritis 		disease Eye Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C3888552
Disease: Autoimmune colitis
Autoimmune colitis 		disease Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0023653
Disease: Lichenification
Lichenification 		phenotype Skin and Connective Tissue Diseases Pathologic Function 12 0.100 None 0
CUI: C0023654
Disease: Lichenification and lichen simplex chronicus
Lichenification and lichen simplex chronicus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 12 0.100 None 0
CUI: C3887590
Disease: Stricture of ureter
Stricture of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 12 0.100 None 0
CUI: C4025887
Disease: Abnormal oral cavity morphology
Abnormal oral cavity morphology 		disease Anatomical Abnormality 12 0.100 None 0
CUI: C0271815
Disease: Postpartum Thyroiditis
Postpartum Thyroiditis 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 13 1 0.020 None 1.000 2 1 1998 2010