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.
3 beta-Hydroxysteroid dehydrogenase 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 Disease or Syndrome 9 25 0.010 None 1.000 1 1993 1993
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 41 30 0.010 None 1.000 1 1997 1997
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 1997 1997
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.020 None 0.500 2 1991 1994
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
disease Endocrine System Diseases Disease or Syndrome 120 9 0.040 None 1.000 4 2000 2009
CUI: C0001621
Disease: Adrenal Gland Diseases
Adrenal Gland Diseases
group Endocrine System Diseases Disease or Syndrome 9 2 0.300 None 1.000 1 2010 2010
CUI: C0001624
Disease: Adrenal Gland Neoplasms
Adrenal Gland Neoplasms
group Neoplasms; Endocrine System Diseases Neoplastic Process 94 0.010 None 1.000 1 2009 2009
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma
disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 2019 2019
CUI: C1621895
Disease: Adrenal hyperplasia
Adrenal hyperplasia
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases Disease or Syndrome 33 0.010 None 1.000 1 2006 2006
CUI: C1332221
Disease: Adult Yolk Sac Tumor
Adult Yolk Sac Tumor
disease Neoplasms Neoplastic Process 35 2 0.010 None 1.000 1 2013 2013
CUI: C4329281
Disease: Advanced Malignant Solid Neoplasm
Advanced Malignant Solid Neoplasm
disease Neoplastic Process 8 0.010 None 1.000 1 2020 2020
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 1995 1995
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2018 2019
CUI: C0003125
Disease: Anorexia Nervosa
Anorexia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 202 72 0.010 None 1.000 1 2016 2016
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 52 0.010 None 1.000 1 1997 1997
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2009 2009
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.010 None 1.000 1 2009 2009
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 278 19 0.010 None 1.000 1 1999 1999
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal
disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 1999 1999
CUI: C0003537
Disease: Aphasia
Aphasia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.010 None 1.000 1 2019 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 1995 1995
CUI: C1706827
Disease: Apocrine Carcinoma
Apocrine Carcinoma
disease Neoplastic Process 11 0.010 None 1.000 1 1995 1995
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 206 2356 0.010 None 1.000 1 2018 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.300 None 1.000 1 2018 2018
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 110 29 0.020 None 1.000 2 1995 1999