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: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 12 0.700 None 1.000 12 12 2000 2018
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
disease Disease or Syndrome 1 3 0.600 None 1.000 7 3 2008 2018
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 70 21 0.140 None 1.000 4 1 2011 2018
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.700 None 1.000 4 4 2015 2018
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 3 0.710 strong 1.000 4 3 2015 2019
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.030 None 1.000 3 2018 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.020 None 1.000 2 2018 2019
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome
disease Neoplasms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 25 2 0.020 None 1.000 2 2008 2015
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.120 None 1.000 2 1 2000 2008
CUI: C0265316
Disease: Neurocutaneous Syndromes
Neurocutaneous Syndromes
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 28 0.020 None 1.000 2 2008 2015
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 3 0.510 None 1.000 2 2 2015 2017
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
disease Eye Diseases Disease or Syndrome 166 37 0.020 None 1.000 2 2000 2008
Cutis Laxa, Autosomal Recessive, Type IIB
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 6 0.020 None 1.000 2 2015 2017
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2015 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.110 None 1.000 1 2014 2014
CUI: C0033300
Disease: Progeria
Progeria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 118 41 0.010 None 1.000 1 2014 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2014 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.110 None 1.000 1 2019 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.300 None 1.000 1 2016 2016
Secondary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1370 20 0.010 None 1.000 1 2016 2016
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 2014 2014
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.010 None 1.000 1 2005 2005
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.010 None 1.000 1 2000 2000
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 4 0.010 None 1.000 1 2005 2005
CUI: C0268540
Disease: HHH syndrome
HHH syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 21 0.010 None 1.000 1 2019 2019