STEAP3, STEAP3 metalloreductase, 55240

N. diseases: 48; N. variants: 2
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.
ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
disease Disease or Syndrome 1 1 0.600 moderate 1.000 1 1 2011 2011
CUI: C0002884
Disease: Hypochromic anemia
Hypochromic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 16 0.310 moderate 1.000 1 2011 2011
Anemia, Hypochromic Microcytic, With Iron Overload
disease Hemic and Lymphatic Diseases Disease or Syndrome 4 2 0.300 None 0
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2084 288 0.100 None 1.000 1 1 2019 2019
CUI: C0333912
Disease: Hypochromatism
Hypochromatism
phenotype Finding 5 0.100 None 0
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin
phenotype Finding 23 1 0.100 None 0
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis
phenotype Finding 14 0.100 None 0
Abnormality of the hypothalamus-pituitary axis
disease Anatomical Abnormality 70 0.100 None 0
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 74 32 0.100 None 0
CUI: C0151900
Disease: Serum iron raised
Serum iron raised
phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C0855790
Disease: Decreased mean corpuscular volume
Decreased mean corpuscular volume
phenotype Finding 6 0.100 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
phenotype Finding 17 0.100 None 0
CUI: C0919785
Disease: Decreased transferrin saturation
Decreased transferrin saturation
phenotype Finding 2 0.100 None 0
CUI: C2675920
Disease: Anisopoikilocytosis
Anisopoikilocytosis
phenotype Finding 6 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C4022891
Disease: Elevated hepatic iron concentration
Elevated hepatic iron concentration
phenotype Finding 5 0.100 None 0
CUI: C4023032
Disease: Dysplastic erythropoesis
Dysplastic erythropoesis
disease Disease or Syndrome 1 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction
phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0004509
Disease: Azoospermia
Azoospermia
disease Male Urogenital Diseases Disease or Syndrome 254 70 0.100 None 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 305 24 0.100 None 0
CUI: C0015672
Disease: Fatigue
Fatigue
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 760 67 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0