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: C0302883
Disease: SMITH DISEASE
SMITH DISEASE 		disease Disease or Syndrome 1 0.030 None 1.000 3 2013 2018
CUI: C0345982
Disease: Multiple self-healing epithelioma of Ferguson-Smith
Multiple self-healing epithelioma of Ferguson-Smith 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 1 0.300 definitive 1.000 3 2011 2016
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		phenotype Finding 1 6 0.400 None 1.000 1 6 2011 2011
CUI: C3898580
Disease: Loeys-Dietz Syndrome Type 2
Loeys-Dietz Syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C4025752
Disease: Abnormal cardiac ventricle morphology
Abnormal cardiac ventricle morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4749284
Disease: Familial bicuspid aortic valve
Familial bicuspid aortic valve 		disease Cardiovascular Diseases Congenital Abnormality 3 0.010 None 1.000 1 2013 2013
CUI: C1861559
Disease: CHROMATE RESISTANCE (disorder)
CHROMATE RESISTANCE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C0042143
Disease: Uterine Rupture
Uterine Rupture 		phenotype Female Urogenital Diseases and Pregnancy Complications; Wounds and Injuries Pathologic Function 4 0.100 None 0
CUI: C0155676
Disease: Pulmonary artery aneurysm
Pulmonary artery aneurysm 		phenotype Cardiovascular Diseases Pathologic Function 4 0.100 None 0
CUI: C1836651
Disease: Generalized arterial tortuosity
Generalized arterial tortuosity 		phenotype Finding 4 0.100 None 0
CUI: C4551955
Disease: Loeys-Dietz Syndrome, Type 1a
Loeys-Dietz Syndrome, Type 1a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 10 0.700 None 1.000 12 9 2005 2016
CUI: C1836635
Disease: Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Aortic Aneurysm Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 5 0.730 None 1.000 7 2005 2012
CUI: C4277533
Disease: Dissection, Blood Vessel
Dissection, Blood Vessel 		phenotype Cardiovascular Diseases Pathologic Function 5 0.300 None 1.000 1 2012 2012
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		disease Disease or Syndrome 5 81 0.100 None 1.000 1 1 2019 2019
CUI: C4703646
Disease: Eosinophilic infiltration of the esophagus
Eosinophilic infiltration of the esophagus 		phenotype Digestive System Diseases Finding 5 0.100 None 0
CUI: C0546476
Disease: Multiple self-healing squamous epithelioma
Multiple self-healing squamous epithelioma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.560 None 1.000 6 1997 2018
CUI: C0333227
Disease: Microembolus
Microembolus 		disease Cardiovascular Diseases Acquired Abnormality 7 0.010 None 1.000 1 2017 2017
CUI: C0813148
Disease: Metastatic Endometrial Carcinoma
Metastatic Endometrial Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C2350038
Disease: Molar Incisor Hypomineralization
Molar Incisor Hypomineralization 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 7 4 0.010 None 1.000 1 2019 2019
CUI: C4330043
Disease: Gingival Squamous Cell Carcinoma
Gingival Squamous Cell Carcinoma 		disease Neoplastic Process 8 0.010 None 1.000 1 2010 2010
CUI: C0008449
Disease: Congenital anomaly of cartilage
Congenital anomaly of cartilage 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 9 0.200 None 1.000 1 2007 2007
CUI: C0340364
Disease: Familial mitral valve prolapse
Familial mitral valve prolapse 		disease Cardiovascular Diseases Congenital Abnormality 10 0.010 None 1.000 1 2014 2014
CUI: C1836646
Disease: Dermal translucency
Dermal translucency 		phenotype Finding 10 2 0.100 None 0
CUI: C4721845
Disease: Marfan Syndrome, Type I
Marfan Syndrome, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.020 None 1.000 2 2008 2009
CUI: C0012817
Disease: Diverticulum
Diverticulum 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 12 0.010 None 1.000 1 2011 2011