UVSSA, UV stimulated scaffold protein A, 57654

N. diseases: 13; N. variants: 4
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: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.660 limited 1.000 6 2012 2019
CUI: C3553328
Disease: UV-SENSITIVE SYNDROME 3
UV-SENSITIVE SYNDROME 3
disease Disease or Syndrome 1 2 0.600 None 1.000 3 2 2012 2012
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.100 None 1.000 1 1 2011 2011
CUI: C0023980
Disease: Longevity
Longevity
phenotype Temporal Concept 48 74 0.100 None 1.000 1 1 2010 2010
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
Increased cellular sensitivity to UV light
phenotype Finding 4 0.100 None 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin
phenotype Skin and Connective Tissue Diseases Pathologic Function 91 3 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: C0039446
Disease: Telangiectasis
Telangiectasis
disease Cardiovascular Diseases Finding 43 0.100 None 0
CUI: C0016689
Disease: Freckles
Freckles
phenotype Skin and Connective Tissue Diseases Finding 45 10 0.100 None 0
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 85 11 0.020 None 1.000 2 2012 2013
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 69 0.010 None 1.000 1 2020 2020
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2020 2020