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: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 12 0.910 strong 1.000 7 12 2007 2016
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1 6 0.700 strong 1.000 3 6 2007 2013
CUI: C0348872
Disease: Disorders of both mitral and tricuspid valves
Disorders of both mitral and tricuspid valves 		disease Disease or Syndrome 1 1 0.100 None 1.000 2 1 2007 2007
CUI: C3854501
Disease: Neonatal testicular torsion
Neonatal testicular torsion 		disease Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		disease Disease or Syndrome 1 9 0.600 None 1.000 1 9 2014 2014
CUI: C4020951
Disease: Pointed helix
Pointed helix 		phenotype Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0158638
Disease: Congenital anomaly of cerebrovascular system
Congenital anomaly of cerebrovascular system 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.010 None 1.000 1 2014 2014
CUI: C0344772
Disease: Cleft leaflet of mitral valve
Cleft leaflet of mitral valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality 2 0.010 None 1.000 1 2013 2013
CUI: C0178829
Disease: reproductive system disorder
reproductive system disorder 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0334230
Disease: Malignant tumor, fusiform cell type
Malignant tumor, fusiform cell type 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C1511104
Disease: Benign Struma Ovarii
Benign Struma Ovarii 		disease Neoplasms Neoplastic Process 5 0.010 None 1.000 1 2007 2007
CUI: C1842036
Disease: GIANT PIGMENTED HAIRY NEVUS
GIANT PIGMENTED HAIRY NEVUS 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5 6 0.010 None 1.000 1 2019 2019
CUI: C2986536
Disease: Bisphosphonate-associated osteonecrosis
Bisphosphonate-associated osteonecrosis 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2003 2003
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 6 26 0.500 strong 1.000 1 2007 2007
CUI: C0347915
Disease: Congenital malformation syndromes associated with short stature
Congenital malformation syndromes associated with short stature 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 0.200 None 1.000 2 2011 2012
CUI: C0019624
Disease: Histiocytosis, Non-Langerhans-Cell
Histiocytosis, Non-Langerhans-Cell 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2016 2016
CUI: C0585474
Disease: Ewing's sarcoma of bone
Ewing's sarcoma of bone 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 1988 1988
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 0.300 None 1.000 2 2007 2007
CUI: C1527404
Disease: Female Pseudo-Turner Syndrome
Female Pseudo-Turner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Congenital Abnormality 11 0.300 None 1.000 2 2007 2007
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 11 33 0.110 None 1.000 2 1 1994 2012
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2014 2014
CUI: C0814152
Disease: Viral hepatitis, type G
Viral hepatitis, type G 		disease Infections Disease or Syndrome 11 0.010 None 1.000 1 1997 1997
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 12 0.200 None 1.000 2 2011 2012
CUI: C0039743
Disease: Thanatophoric Dysplasia
Thanatophoric Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 12 10 0.010 None 1.000 1 2018 2018
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.100 None 0