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: C0746926
Disease: Multiple, subcutaneous nodules
Multiple, subcutaneous nodules
disease Disease or Syndrome 64 0.100 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth
phenotype Stomatognathic Diseases Finding 48 0.100 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 749 36 0.100 0
CUI: C0332606
Disease: Elfin facies
Elfin facies
phenotype Sign or Symptom 10 0.100 0
CUI: C0302501
Disease: Mandibular hyperplasia
Mandibular hyperplasia
phenotype Anatomical Abnormality 101 0.100 0
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Neoplastic Process 382 223 0.300 0
CUI: C0277959
Disease: Coarse hair
Coarse hair
phenotype Finding 44 0.100 0
CUI: C0271708
Disease: Fasting Hypoglycemia
Fasting Hypoglycemia
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 29 0.100 0
CUI: C0270948
Disease: Neurogenic Muscular Atrophy
Neurogenic Muscular Atrophy
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Pathologic Function 227 0.100 0
CUI: C0269011
Disease: Increased size of penis
Increased size of penis
phenotype Finding 9 0.100 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 107 3 0.100 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype Finding 86 21 0.100 0
CUI: C0426870
Disease: Large hand
Large hand
phenotype Finding 30 1 0.100 0
CUI: C0683322
Disease: Mental impairment
Mental impairment
disease Mental or Behavioral Dysfunction 181 3 0.100 0
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia
phenotype Pathologic Function 12 0.100 0
CUI: C0576225
Disease: Long foot
Long foot
phenotype Finding 16 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C0554972
Disease: Large auricle
Large auricle
phenotype Finding 133 0.100 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age
phenotype Finding 49 0.100 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 214 0.100 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 182 0.100 0
CUI: C0442874
Disease: Neuropathy
Neuropathy
group Disease or Syndrome 283 58 0.100 0
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face
group Congenital Abnormality 125 3 0.100 0
CUI: C0266054
Disease: Premature tooth eruption
Premature tooth eruption
phenotype Finding 8 0.100 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis
disease Disease or Syndrome 16 0.100 0