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: C4016951
Disease: BREAST CANCER, EARLY-ONSET
BREAST CANCER, EARLY-ONSET
disease Finding 1 4 0.100 None 0 4
FANCONI ANEMIA, COMPLEMENTATION GROUP J
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 141 0.760 definitive 1.000 61 141 2004 2018
CUI: C2347751
Disease: Adult Grade I Meningioma
Adult Grade I Meningioma
disease Neoplastic Process 6 1 0.010 None 1.000 1 1 2018 2018
CUI: C2347760
Disease: Childhood Grade I Meningioma
Childhood Grade I Meningioma
disease Neoplastic Process 6 1 0.010 None 1.000 1 1 2018 2018
CUI: C1512260
Disease: Grade I Meningioma
Grade I Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 7 1 0.010 None 1.000 1 1 2018 2018
Chromosomal breakage induced by crosslinking agents
phenotype Pathological Conditions, Signs and Symptoms Finding 8 0.100 None 0
CUI: C0948303
Disease: Carcinoma of peritoneum
Carcinoma of peritoneum
disease Neoplastic Process 10 0.010 None 1.000 1 2016 2016
CUI: C0334611
Disease: Transitional Meningioma
Transitional Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 15 1 0.010 None 1.000 1 1 2018 2018
Esophageal atresia with or without tracheoesophageal fistula
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 19 12 0.100 None 0 1
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4022016
Disease: Abnormality of the preputium
Abnormality of the preputium
disease Anatomical Abnormality 22 0.100 None 0
CUI: C4023917
Disease: Aplasia/Hypoplasia of the uvula
Aplasia/Hypoplasia of the uvula
phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4025071
Disease: Aplasia/Hypoplasia of fingers
Aplasia/Hypoplasia of fingers
phenotype Anatomical Abnormality 22 0.100 None 0
Pyridoxine-responsive sideroblastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.100 None 0
CUI: C0342526
Disease: Absent testes
Absent testes
phenotype Finding 24 0.100 None 0
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2010 2010
CUI: C0238093
Disease: Stenosis of duodenum
Stenosis of duodenum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 29 1 0.100 None 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology
disease Anatomical Abnormality 29 1 0.100 None 0
CUI: C0151640
Disease: Decreased fertility in males
Decreased fertility in males
phenotype Male Urogenital Diseases Finding 30 0.100 None 0
CUI: C3887489
Disease: Clubbing of toes
Clubbing of toes
disease Anatomical Abnormality 30 0.100 None 0
CUI: C4025211
Disease: Abnormal carotid artery morphology
Abnormal carotid artery morphology
disease Anatomical Abnormality 32 0.100 None 0
CUI: C4021750
Disease: Abnormality of femur morphology
Abnormality of femur morphology
disease Anatomical Abnormality 33 1 0.100 None 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray
phenotype Finding 34 0.300 strong 1.000 1 2005 2005
CUI: C4551705
Disease: Abnormality of chromosome stability
Abnormality of chromosome stability
phenotype Cell or Molecular Dysfunction 34 1 0.100 None 0
CUI: C1698259
Disease: HCV coinfection
HCV coinfection
disease Disease or Syndrome 37 5 0.010 None 1.000 1 2014 2014