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: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder
disease Neoplastic Process 15 0.300 0
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 203 47 0.300 strong 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 moderate 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplastic Process 167 7 0.300 0
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.300 0
CUI: C1956125
Disease: Alagille Syndrome 1
Alagille Syndrome 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 2 46 0.300 0
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.300 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplastic Process 15 0.300 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplastic Process 43 0.300 0
CUI: C2930797
Disease: Hepatic ductular hypoplasia
Hepatic ductular hypoplasia
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 2 0.300 0
CUI: C2930971
Disease: Acroosteolysis dominant type
Acroosteolysis dominant type
disease Musculoskeletal Diseases Disease or Syndrome 1 0.300 0
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 617 126 0.300 0
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplastic Process 1161 165 0.300 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder
disease Neoplastic Process 16 0.300 0
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 151 2 0.200 0
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine
phenotype Anatomical Abnormality 83 1 0.100 0
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity
phenotype Musculoskeletal Diseases Anatomical Abnormality 69 1 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 68 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 66 0.100 0
CUI: C1839798
Disease: Long nose
Long nose
phenotype Finding 23 0.100 0
CUI: C1839604
Disease: Renal failure in adulthood
Renal failure in adulthood
phenotype Finding 95 2 0.100 0
CUI: C1836195
Disease: Short toe
Short toe
phenotype Finding 38 0.100 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 86 4 0.100 0