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: 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: C0341823
Disease: Epithelial tumor of ovary
Epithelial tumor of ovary
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 6 0.300 None 0
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.300 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: C0585362
Disease: Squamous cell carcinoma of mouth
Squamous cell carcinoma of mouth
disease Digestive System Diseases; Neoplasms; Stomatognathic Diseases Neoplastic Process 123 1 0.300 None 0
MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC
phenotype Finding 1 0.300 None 0
Nevus, Keratinocytic, Nonepidermolytic
disease Neoplasms Neoplastic Process 4 0.300 None 0
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 107 84 0.200 None 0
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 25 0.200 None 0
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 8 13 0.200 None 0
Congenital malformation syndromes involving early overgrowth
disease Disease or Syndrome 1 0.200 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0001816
Disease: Agnosia
Agnosia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 17 0.100 None 0
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
disease Eye Diseases Disease or Syndrome 13 90 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 53 4 0.100 None 0
CUI: C0005937
Disease: Bone Cysts
Bone Cysts
disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0
CUI: C0007120
Disease: Bronchioloalveolar Adenocarcinoma
Bronchioloalveolar Adenocarcinoma
disease Neoplasms Neoplastic Process 136 5 0.100 None 0
CUI: C0009806
Disease: Constipation
Constipation
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 424 57 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
Colon diverticulum anatomic structure
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0