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: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.310 strong 1.000 1 2017 2017
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
CUI: C2931653
Disease: Petty Laxova Wiedemann syndrome
Petty Laxova Wiedemann syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.300 0
CUI: C0345382
Disease: Gorlin Chaudhry Moss syndrome
Gorlin Chaudhry Moss syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.300 0
Malignant Central Nervous System Neoplasm
disease Neoplastic Process 44 87 0.100 1 1 2009 2009
CUI: C4024202
Disease: Reduced number of teeth
Reduced number of teeth
phenotype Finding 30 0.100 0
Aplasia/Hypoplasia of the nasal bone
phenotype Anatomical Abnormality 1 0.100 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones
phenotype Anatomical Abnormality 34 0.100 0
CUI: C4020777
Disease: Underdeveloped brows
Underdeveloped brows
phenotype Finding 47 0.100 0
CUI: C1856266
Disease: Coronal craniosynostosis
Coronal craniosynostosis
disease Disease or Syndrome 19 1 0.100 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 148 2 0.100 0
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
disease Disease or Syndrome 542 0.100 0
mandibular excess (physical finding)
phenotype Finding 101 0.100 0
CUI: C1970705
Disease: Fragile hair
Fragile hair
phenotype Finding 35 0.100 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance
phenotype Finding 24 0.100 0
CUI: C1866234
Disease: Protruding lower lip
Protruding lower lip
phenotype Finding 86 0.100 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel
phenotype Finding 57 2 0.100 0
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges
phenotype Finding 47 0.100 0
CUI: C1860844
Disease: Thin, sparse hair
Thin, sparse hair
phenotype Sign or Symptom 95 0.100 0
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
phenotype Finding 17 0.100 0
CUI: C4531021
Disease: Undergrowth
Undergrowth
phenotype Finding 528 0.100 0
CUI: C4280645
Disease: Hypertrophy of lower jaw
Hypertrophy of lower jaw
phenotype Finding 101 0.100 0
CUI: C4280644
Disease: Increased size of the mandible
Increased size of the mandible
phenotype Finding 103 0.100 0
CUI: C4280643
Disease: Decreased projection of maxilla
Decreased projection of maxilla
phenotype Finding 83 0.100 0