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 Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 16 0.300 None 0
Neoplasm of uncertain or unknown behavior of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 15 0.300 None 0
Abnormality of amino acid metabolism
phenotype Finding 8 0.100 None 0
CUI: C0039446
Disease: Telangiectasis
Telangiectasis
disease Cardiovascular Diseases Finding 43 0.100 None 0
CUI: C0038379
Disease: Strabismus
Strabismus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch
phenotype Skin and Connective Tissue Diseases Finding 123 2 0.100 None 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1836933
Disease: Low-set nipples
Low-set nipples
phenotype Finding 9 2 0.100 None 0
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay
phenotype Finding 130 50 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate
phenotype Finding 129 21 0.100 None 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies
phenotype Finding 12 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1837770
Disease: Sparse hair
Sparse hair
phenotype Finding 112 9 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 59 2 0.100 None 0
CUI: C0042109
Disease: Urticaria
Urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 0.100 None 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia
phenotype Finding 20 2 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin
phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
phenotype Nervous System Diseases Finding 227 27 0.100 None 0
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.100 None 0
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 94 9 0.100 None 0