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: C0162810
Disease: Cicatrix, Hypertrophic
Cicatrix, Hypertrophic
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 84 2 0.010 1.000 1 1998 1998
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 3 0.100 0
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot
phenotype Acquired Abnormality 103 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0002940
Disease: Aneurysm
Aneurysm
phenotype Cardiovascular Diseases Anatomical Abnormality 151 7 0.040 1.000 4 2006 2013
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 123 4 0.300 1 2006 2006
CUI: C0345996
Disease: Milium Cyst
Milium Cyst
phenotype Anatomical Abnormality 18 0.010 1.000 1 2011 2011
CUI: C0016202
Disease: Flatfoot
Flatfoot
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 107 4 0.100 0
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand
phenotype Anatomical Abnormality 39 0.100 0
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1858085
Disease: Malar flattening
Malar flattening
phenotype Anatomical Abnormality 159 1 0.100 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 29 2 0.100 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 118 3 0.100 0
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 396 0.100 0
CUI: C4025741
Disease: Clinodactyly of the 5th toe
Clinodactyly of the 5th toe
phenotype Anatomical Abnormality 6 0.100 0
CUI: C4025845
Disease: Abnormality of the iris
Abnormality of the iris
phenotype Anatomical Abnormality 15 0.100 0
CUI: C4476523
Disease: Decreased projection of lower jaw
Decreased projection of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476524
Disease: Decreased projection of mandible
Decreased projection of mandible
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476525
Disease: Retrusion of lower jaw
Retrusion of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype
phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 2 1995 2016
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.340 strong 1.000 4 2 2006 2007
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve
disease Cardiovascular Diseases Congenital Abnormality 50 11 0.030 1.000 3 1 2008 2016
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 250 16 0.120 1.000 2 2004 2015
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 2 2006 2006
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 111 10 0.010 1.000 1 2003 2003