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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.400 limited 0
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.300 limited 0
CUI: C2931588
Disease: GEMSS syndrome
GEMSS syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 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 0
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 324 26 0.200 0
CUI: C0271215
Disease: Blindness, Legal
Blindness, Legal
disease Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 157 0.100 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 7 0.100 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 64 0.100 0
CUI: C1856468
Disease: Round, full face
Round, full face
phenotype Finding 65 1 0.100 0
CUI: C0267716
Disease: Incisional hernia
Incisional hernia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.100 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Finding 231 8 0.100 0
CUI: C1854912
Disease: Short long bone
Short long bone
phenotype Finding 33 1 0.100 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies
phenotype Finding 22 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 670 121 0.100 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
phenotype Anatomical Abnormality 135 0.100 0
CUI: C0302501
Disease: Mandibular hyperplasia
Mandibular hyperplasia
phenotype Anatomical Abnormality 101 0.100 0
CUI: C0344539
Disease: Hypoplasia of iris
Hypoplasia of iris
disease Congenital Abnormality 19 1 0.100 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 178 4 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Finding 84 2 0.100 0
CUI: C0423320
Disease: Iridodonesis
Iridodonesis
disease Disease or Syndrome 2 0.100 0
CUI: C0423276
Disease: Shallow anterior chamber of eye
Shallow anterior chamber of eye
phenotype Finding 5 0.100 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Finding 102 0.100 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 95 0.100 0