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: C0333307
Disease: Superficial ulcer
Superficial ulcer 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10 0.100 None 0.923 13 1996 2012
CUI: C0035450
Disease: Rheumatoid Nodule
Rheumatoid Nodule 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3 0.060 None 1.000 6 1992 2010
CUI: C0022548
Disease: Keloid
Keloid 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.040 None 0.750 4 2008 2010
CUI: C0038529
Disease: Subchondral Cysts
Subchondral Cysts 		disease Neoplasms; Musculoskeletal Diseases Acquired Abnormality 3 0.010 None 1.000 1 1998 1998
CUI: C0410158
Disease: Muscle damage
Muscle damage 		phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2010 2010
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0238669
Disease: Aortic root dilatation
Aortic root dilatation 		disease Cardiovascular Diseases Anatomical Abnormality 15 0.010 None 1.000 1 2012 2012
CUI: C0267561
Disease: Perianal fistula
Perianal fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Anatomical Abnormality 7 2 0.010 None 1.000 1 2001 2001
CUI: C0333113
Disease: Sacculation
Sacculation 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 14 0.010 None 1.000 1 2001 2001
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0
CUI: C0149772
Disease: Abnormal salivary gland morphology
Abnormal salivary gland morphology 		phenotype Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		disease Musculoskeletal Diseases Anatomical Abnormality 55 5 0.100 None 0
CUI: C0343149
Disease: Contracture of joint of foot
Contracture of joint of foot 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C4021096
Disease: Abnormal reproductive system morphology
Abnormal reproductive system morphology 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4021910
Disease: Narrow foramen obturatorium
Narrow foramen obturatorium 		disease Anatomical Abnormality 6 0.100 None 0
CUI: C4022020
Disease: Mucosal telangiectasiae
Mucosal telangiectasiae 		disease Cardiovascular Diseases Anatomical Abnormality 16 0.100 None 0
CUI: C4022605
Disease: Abnormal liver parenchyma morphology
Abnormal liver parenchyma morphology 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C4023588
Disease: Abnormality of the gastrointestinal tract
Abnormality of the gastrointestinal tract 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 14 1 0.100 None 0
CUI: C4025698
Disease: Abnormality of the peritoneum
Abnormality of the peritoneum 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C4025854
Disease: Abnormality of the nasal mucosa
Abnormality of the nasal mucosa 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.010 None 1.000 1 2011 2011
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2001 2001
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.010 None 1.000 1 2012 2012
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.010 None 1.000 1 2012 2012