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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		disease Disease or Syndrome 55 28 0.010 None 1.000 1 1986 1986
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		disease Disease or Syndrome 11 4 0.010 None 1.000 1 1992 1992
CUI: C3280641
Disease: Decreased serum complement C4b
Decreased serum complement C4b 		disease Disease or Syndrome 8 0.010 None 1.000 1 2010 2010
CUI: C0155765
Disease: Disease of capillaries
Disease of capillaries 		group Cardiovascular Diseases Disease or Syndrome 61 5 0.020 None 1.000 2 1985 1986
CUI: C3280642
Disease: Complement Component 4a Deficiency
Complement Component 4a Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 6 0.020 None 1.000 2 2000 2016
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 50 62 0.020 None 1.000 2 1986 1986
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 54 26 0.010 None 1.000 1 1986 1986
CUI: C0011847
Disease: Diabetes
Diabetes 		disease Endocrine System Diseases Disease or Syndrome 2359 710 0.010 None 1.000 1 2005 2005
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		disease Eye Diseases Disease or Syndrome 53 20 0.010 None 1.000 1 1988 1988
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		disease Eye Diseases Disease or Syndrome 90 30 0.010 None 1.000 1 1988 1988
CUI: C0221023
Disease: Cyclic neutropenia
Cyclic neutropenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 52 14 0.010 None 1.000 1 1985 1985
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.020 None 1.000 2 1984 1994
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		group Immune System Diseases Disease or Syndrome 451 116 0.010 None 1.000 1 1989 1989
CUI: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 72 25 0.010 None 1.000 1 1989 1989
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		disease Infections; Cardiovascular Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 1995 1995
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.010 None 1.000 1 2017 2017
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 1992 1992
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 556 13 0.010 None 1.000 1 2013 2013
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 475 7 0.010 None 1.000 1 2013 2013
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		disease Neoplasms; Infections; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 477 7 0.010 None 1.000 1 2013 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 1984 1984
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.070 None 0.571 7 1984 1999
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.020 None 1.000 2 2000 2004
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2005 2005
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 1985 1985