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: C0175701
Disease: Aarskog syndrome
Aarskog syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 42 24 0.200 None 1.000 2 2011 2012
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 44 0.100 None 0
CUI: C4021662
Disease: Abnormal endocardium morphology
Abnormal endocardium morphology
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 23 0.100 None 0
CUI: C4023397
Disease: Abnormal hair quantity
Abnormal hair quantity
disease Anatomical Abnormality 29 0.100 None 0
CUI: C4020968
Disease: Abnormal localization of kidney
Abnormal localization of kidney
disease Anatomical Abnormality 40 0.100 None 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function
phenotype Finding 21 2 0.100 None 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
phenotype Finding 59 15 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve
disease Finding 40 0.100 None 0
CUI: C4025749
Disease: Abnormality of the spleen
Abnormality of the spleen
disease Anatomical Abnormality 26 1 0.100 None 0
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum
phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice
disease Finding 64 0.100 None 0
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus
disease Acquired Abnormality 35 1 0.100 None 0
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Infections; Immune System Diseases Disease or Syndrome 243 42 0.010 None 1.000 1 2019 2019
CUI: C0001206
Disease: Acromegaly
Acromegaly
disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.010 None 1.000 1 2015 2015
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2 0.010 None 1.000 1 2017 2017
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 302 5 0.010 None 1.000 1 1994 1994
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
disease Neoplasms Neoplastic Process 159 15 0.010 None 1.000 1 1994 1994
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia
disease Neoplasms Neoplastic Process 633 22 0.010 None 1.000 1 2019 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2019 2019
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.030 None 1.000 3 2012 2019
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
group Neoplasms Neoplastic Process 2235 168 0.070 None 1.000 7 1991 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.430 None 1.000 4 1 2014 2016
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 518 138 0.010 None 1.000 1 1997 1997
CUI: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.030 None 1.000 3 2000 2014
CUI: C0280483
Disease: Adult Anaplastic Astrocytoma
Adult Anaplastic Astrocytoma
disease Neoplasms Neoplastic Process 90 8 0.010 None 1.000 1 2013 2013