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: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.020 None 1.000 2 2008 2010
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 59 123 0.020 None 1.000 2 2008 2010
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus
disease Congenital Abnormality 3 1 0.010 None 1.000 1 2013 2013
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
disease Musculoskeletal Diseases Disease or Syndrome 7 16 0.310 None 1.000 1 2015 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None < 0.001 1 2010 2010
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2017 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2019 2019
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 6 3 0.010 None 1.000 1 2015 2015
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2017 2017
CUI: C0013393
Disease: Dysostoses
Dysostoses
disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2008 2008
CUI: C0011813
Disease: Dextrocardia
Dextrocardia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 30 6 0.010 None 1.000 1 2015 2015
Abnormality of female internal genitalia
disease Anatomical Abnormality 31 0.100 None 0
CUI: C1844753
Disease: Block vertebrae
Block vertebrae
phenotype Finding 4 0.100 None 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter
phenotype Finding 19 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
Abnormal form of the vertebral bodies
phenotype Finding 89 0.100 None 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Congenital Abnormality 14 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
Restrictive deficit on pulmonary function testing
phenotype Respiratory Tract Diseases Disease or Syndrome 16 6 0.100 None 0
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 235 0.100 None 0
CUI: C4551493
Disease: Situs inversus totalis
Situs inversus totalis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 104 8 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead
phenotype Finding 133 13 0.100 None 0
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3
disease Musculoskeletal Diseases Disease or Syndrome 6 3 0.300 None 0
Abnormality of the intervertebral disk
disease Anatomical Abnormality 30 0.100 None 0