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.
Histiocytosis with joint contractures and sensorineural deafness
disease Hemic and Lymphatic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 16 0.800 1.000 29 16 2005 2017
CUI: C0019618
Disease: Histiocytosis
Histiocytosis
disease Hemic and Lymphatic Diseases Neoplastic Process 13 1 0.450 0.800 5 2010 2014
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 49 9 0.440 1.000 5 2009 2017
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Digestive System Diseases; Pathological Conditions, Signs and Symptoms Finding 372 0.400 1 2010 2010
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism
disease Endocrine System Diseases Disease or Syndrome 67 0.400 1 2010 2010
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.400 1 2010 2010
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 50 3 0.400 2 2009 2010
CUI: C0019625
Disease: Sinus histiocytosis
Sinus histiocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 8 0.360 0.833 6 2010 2014
Diabetes Mellitus, Insulin-Dependent
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 955 775 0.360 1.000 7 2009 2017
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 204 8 0.310 1.000 1 2010 2010
CUI: C0432262
Disease: Dysosteosclerosis
Dysosteosclerosis
disease Musculoskeletal Diseases Disease or Syndrome 1 0.310 1.000 1 2013 2013
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 740 143 0.310 1.000 1 1 2010 2010
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 574 137 0.310 1.000 1 2010 2010
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 125 11 0.300 1 2010 2010
Hypogonadism, Isolated Hypogonadotropic
disease Endocrine System Diseases Disease or Syndrome 116 18 0.300 1 2010 2010
CUI: C3837958
Disease: Diabetes Mellitus, Ketosis-Prone
Diabetes Mellitus, Ketosis-Prone
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 45 1 0.300 2 2009 2010
Idiopathic hypogonadotropic hypogonadism
disease Endocrine System Diseases Disease or Syndrome 62 42 0.300 strong 5 2006 2016
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 110 3 0.300 2 2009 2010
CUI: C0342302
Disease: Brittle diabetes
Brittle diabetes
disease Endocrine System Diseases; Immune System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 43 0.300 2 2009 2010
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.300 1 2010 2010
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1506 440 0.120 1.000 2 2009 2014
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves
group Anatomical Abnormality 9 2 0.100 0
CUI: C4280615
Disease: Defective tooth enamel
Defective tooth enamel
phenotype Finding 41 0.100 0
CUI: C4280518
Disease: Hypertrophy of craniofacial bones
Hypertrophy of craniofacial bones
phenotype Finding 16 0.100 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates
phenotype Finding 20 0.100 0