GSS, glutathione synthetase, 2937

N. diseases: 14; N. variants: 20
Source: CURATED ×
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: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 13 0.740 definitive 0.944 15 13 1953 2019
Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to
disease Disease or Syndrome 1 1 0.700 None 1.000 5 1 1996 2016
CUI: C0520572
Disease: Enzymopathy
Enzymopathy
group Nutritional and Metabolic Diseases Disease or Syndrome 11 0.310 strong 1.000 2 1996 2001
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal
disease Neoplasms; Animal Diseases Neoplastic Process 142 0.300 None 1.000 1 2002 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 163 0.300 None 1.000 1 2002 2002
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 163 0.300 None 1.000 1 2002 2002
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 163 0.300 None 1.000 1 2002 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 163 0.300 None 1.000 1 2002 2002
CUI: C0162351
Disease: Contact hypersensitivity
Contact hypersensitivity
phenotype Skin and Connective Tissue Diseases Pathologic Function 71 0.300 None 1.000 1 2015 2015
CUI: C0026636
Disease: Mouth Diseases
Mouth Diseases
group Stomatognathic Diseases Disease or Syndrome 12 0.300 None 1.000 1 2007 2007
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 155 0.300 None 1.000 1 2002 2002
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 142 0.300 None 1.000 1 2002 2002
CUI: C0011616
Disease: Contact Dermatitis
Contact Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 71 0.300 None 1.000 1 2015 2015
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 164 15 0.300 None 1.000 1 2002 2002