UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
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: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 20 26 1.000 None 0.982 57 23 1990 2019
Deficiency of Uroporphyrinogen III Synthase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 2 0.310 None 1.000 1 2 2017 2017
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.130 None 1.000 3 2012 2017
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2012 2012
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0271321
Disease: Madarosis of eyelid
Madarosis of eyelid
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 4 0.100 None 0
Compression fracture of vertebral column
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C0241165
Disease: Thick skin
Thick skin
phenotype Finding 40 1 0.100 None 0
CUI: C4316878
Disease: Loss of eyelashes
Loss of eyelashes
phenotype Finding 4 0.100 None 0
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C4721411
Disease: Osteolysis
Osteolysis
phenotype Musculoskeletal Diseases Pathologic Function 62 0.100 None 0
CUI: C0349702
Disease: Corneal Scar
Corneal Scar
phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 0.100 None 0
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 19 1 0.100 None 0
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 22 0.100 None 0
CUI: C4280783
Disease: Erythrodontia
Erythrodontia
phenotype Finding 1 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
phenotype Finding 123 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin
phenotype Finding 75 10 0.100 None 0
CUI: C1853193
Disease: Recurrent skin infections
Recurrent skin infections
phenotype Infections; Skin and Connective Tissue Diseases Disease or Syndrome 95 2 0.100 None 0
CUI: C1849715
Disease: Pink urine
Pink urine
phenotype Finding 1 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 0.100 None 0
CUI: C0522153
Disease: Urine Discoloration
Urine Discoloration
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 10 1 0.100 None 0