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.
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 3 0.650 0.800 11 3 1992 2013
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 104 8 0.350 strong 1.000 12 1992 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 334 2 0.300 1 2016 2016
Congenital aneurysm of ascending aorta
disease Cardiovascular Diseases Congenital Abnormality 57 3 0.300 limited 0
CUI: C0241181
Disease: Fragile skin
Fragile skin
phenotype Finding 21 1 0.100 0
CUI: C0973461
Disease: Dysphasia
Dysphasia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 40 0.100 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 38 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border
phenotype Finding 52 1 0.100 0
CUI: C1849043
Disease: Soft, doughy skin
Soft, doughy skin
phenotype Finding 3 0.100 0
CUI: C1853246
Disease: Everted lower lip vermilion
Everted lower lip vermilion
phenotype Finding 86 0.100 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Finding 231 8 0.100 0
CUI: C1857011
Disease: Recurrent mandibular subluxations
Recurrent mandibular subluxations
phenotype Finding 1 0.100 0
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 0.100 0
CUI: C0747078
Disease: Generalized osteopenia
Generalized osteopenia
disease Disease or Syndrome 144 3 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C0037932
Disease: Curvature of spine
Curvature of spine
phenotype Musculoskeletal Diseases Finding 407 11 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth
phenotype Stomatognathic Diseases Finding 48 0.100 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
phenotype Finding 221 5 0.100 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 67 0.100 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Finding 84 2 0.100 0
CUI: C0542514
Disease: Blue sclera
Blue sclera
phenotype Finding 43 2 0.100 0
CUI: C0581342
Disease: Redundant skin
Redundant skin
phenotype Pathologic Function 35 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0