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.
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.710 None 1.000 4 1 2008 2017
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 77 14 0.340 None 1.000 4 2008 2019
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 54 2 0.300 None 1.000 2 2008 2012
CUI: C0524730
Disease: Odontome
Odontome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 10 0.300 None 1.000 2 2008 2012
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.300 None 1.000 2 2008 2012
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 7 391 0.300 None 1.000 1 2008 2008
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
group Musculoskeletal Diseases Disease or Syndrome 317 10 0.300 None 1.000 1 2012 2012
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.300 None 1.000 1 2008 2008
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2008 2008
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0235950
Disease: Zinc deficiency
Zinc deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 90 4 0.210 None 1.000 1 2011 2011
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases
group Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome 195 20 0.200 None 1.000 1 2015 2015
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
phenotype Clinical Attribute 70 183 0.100 None 1.000 1 1 2015 2015
CUI: C0562350
Disease: Hip circumference
Hip circumference
phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2015 2015
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis
disease Anatomical Abnormality 97 0.100 None 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C4551488
Disease: Bifid uvula
Bifid uvula
disease Congenital Abnormality 97 7 0.100 None 0
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption
phenotype Finding 139 4 0.100 None 0
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding)
phenotype Finding 91 19 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C1864715
Disease: Thenar muscle atrophy
Thenar muscle atrophy
phenotype Finding 7 0.100 None 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 31 0.100 None 0
CUI: C1861519
Disease: Moderately short stature
Moderately short stature
phenotype Finding 5 0.100 None 0