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: C0442887
Disease: Septal hypertrophy
Septal hypertrophy 		disease Acquired Abnormality 12 11 0.100 None 1.000 4 1 2002 2009
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2015 2015
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.010 None 1.000 1 2019 2019
CUI: C0332840
Disease: Amputated structure (morphologic abnormality)
Amputated structure (morphologic abnormality) 		phenotype Wounds and Injuries Acquired Abnormality 94 0.010 None 1.000 1 2017 2017
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.020 None 1.000 2 2011 2014
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.010 None 1.000 1 2011 2011
CUI: C0238669
Disease: Aortic root dilatation
Aortic root dilatation 		disease Cardiovascular Diseases Anatomical Abnormality 15 0.010 None 1.000 1 2007 2007
CUI: C0795693
Disease: Skeletal malformation
Skeletal malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Anatomical Abnormality 6 0.010 None 1.000 1 2011 2011
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 55 14 0.110 None 1.000 1 2005 2005
CUI: C1399793
Disease: skin fold (abnormality)
skin fold (abnormality) 		disease Anatomical Abnormality 21 8 0.010 None 1.000 1 1 2019 2019
CUI: C3163961
Disease: Dysplastic nodule
Dysplastic nodule 		disease Anatomical Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		phenotype Anatomical Abnormality 12 1 0.010 None 1.000 1 2017 2017
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.100 None 0 1
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease Cardiovascular Diseases Anatomical Abnormality 36 2 0.100 None 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease Musculoskeletal Diseases Anatomical Abnormality 155 17 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0 3
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney 		disease Anatomical Abnormality 40 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		disease Anatomical Abnormality 22 1 0.100 None 0 1
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 23 0.100 None 0
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		phenotype Anatomical Abnormality 24 5 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0 3
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		phenotype Anatomical Abnormality 12 13 0.100 None 0 1