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: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.210 None 1.000 2 1995 2001
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.210 None 1.000 1 2016 2016
CUI: C4511136
Disease: Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency
Congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency 		disease Disease or Syndrome 1 0.300 None 1.000 2 2010 2012
CUI: C1861106
Disease: Thyrotropin-Releasing Hormone Resistance, Generalized
Thyrotropin-Releasing Hormone Resistance, Generalized 		disease Endocrine System Diseases Disease or Syndrome 1 0.300 strong 1.000 1 2009 2009
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome 		disease Endocrine System Diseases Disease or Syndrome 25 5 0.300 None 1.000 1 1997 1997
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 47 2 0.300 None 1.000 1 1997 1997
CUI: C4316995
Disease: Primary Hypothyroidism
Primary Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 19 3 0.300 None 1.000 1 1997 1997
CUI: C4722330
Disease: Generalized Thyroid Hormone Resistance
Generalized Thyroid Hormone Resistance 		disease Endocrine System Diseases Disease or Syndrome 45 34 0.300 None 1.000 1 1997 1997
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 35 3 0.310 None 1.000 2 1997 2017
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.410 None 1.000 2 1 1997 2018