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: C1266158
Disease: Nongerminomatous Germ Cell Tumor
Nongerminomatous Germ Cell Tumor
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 34 1 0.400 None 0 1
CUI: C0153943
Disease: Benign neoplasm of stomach
Benign neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
CUI: C0154060
Disease: Carcinoma in situ of stomach
Carcinoma in situ of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 19 0.300 None 0
CUI: C0278600
Disease: Childhood Brain Stem Glioma
Childhood Brain Stem Glioma
disease Neoplastic Process 1 0.300 None 0
Neoplasm of uncertain or unknown behavior of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 17 0.300 None 0
Neoplasm of uncertain or unknown behavior of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 29 0.300 None 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 0.300 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.300 None 0
Noonan syndrome-like disorder with loose anagen hair
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 3 0.300 0
Noonan-Like Syndrome With Loose Anagen Hair
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 22 4 0.300 0
CUI: C0023381
Disease: Letterer-Siwe Disease
Letterer-Siwe Disease
disease Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.200 None 0
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
disease Disease or Syndrome 14 0.200 None 0
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0 1
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 88 6 0.100 None 0
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 559 111 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0 2
CUI: C0006281
Disease: Congenital bronchogenic cyst
Congenital bronchogenic cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Respiratory Tract Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0006384
Disease: Bundle-Branch Block
Bundle-Branch Block
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma
disease Neoplasms Neoplastic Process 136 5 0.100 None 0
CUI: C0009421
Disease: Comatose
Comatose
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 0.100 None 0
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0 1
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 751 232 0.100 None 0
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.100 None 0 1