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: C3809006
Disease: CARDIOFACIOCUTANEOUS SYNDROME 3
CARDIOFACIOCUTANEOUS SYNDROME 3 		disease Disease or Syndrome 1 8 0.600 None 1.000 7 8 2006 2017
CUI: C2699508
Disease: Splenic diffuse red pulp small B-cell lymphoma
Splenic diffuse red pulp small B-cell lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C0424492
Disease: Coarse features
Coarse features 		phenotype Finding 2 2 0.100 None 1.000 1 1 2008 2008
CUI: C3898569
Disease: Low Grade Astrocytic Tumor
Low Grade Astrocytic Tumor 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4024750
Disease: Abnormality of the palpebral fissures
Abnormality of the palpebral fissures 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0025239
Disease: Melorheostosis
Melorheostosis 		disease Musculoskeletal Diseases Disease or Syndrome 4 2 0.040 None 1.000 4 2018 2019
CUI: C1864795
Disease: Superior pectus carinatum
Superior pectus carinatum 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Finding 5 1 0.100 None 0
CUI: C1864796
Disease: Pectus excavatum of inferior sternum
Pectus excavatum of inferior sternum 		phenotype Finding 5 0.100 None 0
CUI: C4024692
Disease: Reduced factor XIII activity
Reduced factor XIII activity 		phenotype Finding 5 0.100 None 0
CUI: C4073145
Disease: Hyperkeratosis pilaris
Hyperkeratosis pilaris 		disease Disease or Syndrome 5 3 0.100 None 0
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 0.300 limited 1.000 1 2015 2015
CUI: C4317126
Disease: Niacin deficiency
Niacin deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2019 2019
CUI: C0398639
Disease: Amegakaryocytic thrombocytopenia
Amegakaryocytic thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.100 None 0
CUI: C4022755
Disease: Functional abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract 		phenotype Pathologic Function 7 0.100 None 0
CUI: C0343082
Disease: Senile angioma
Senile angioma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2010 2010
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: 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 1 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 1 2007 2007
CUI: C2242472
Disease: Infection of bone
Infection of bone 		disease Pathological Conditions, Signs and Symptoms; Infections; Musculoskeletal Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C1834124
Disease: Shield chest
Shield chest 		phenotype Finding 12 2 0.100 None 0
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 13 12 0.100 None 0
CUI: C3551431
Disease: Sparse or absent eyelashes
Sparse or absent eyelashes 		phenotype Finding 13 0.100 None 0
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 13 0.100 None 0
CUI: C0869083
Disease: Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM 		disease Disease or Syndrome 14 0.200 None 0
CUI: C4025662
Disease: Abnormality of the ulna
Abnormality of the ulna 		phenotype Anatomical Abnormality 14 0.100 None 0