TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2011 2011
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion
disease Disease or Syndrome 40 1 0.010 None 1.000 1 2017 2017
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer
disease Neoplastic Process 398 7 0.010 None 1.000 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
Soluble Transferrin Receptor Measurement
phenotype Laboratory Procedure 7 7 0.100 None 1.000 1 1 2011 2011
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.010 None 1.000 1 2017 2017
CUI: C0221278
Disease: Anisocytosis
Anisocytosis
phenotype Finding 16 1 0.100 None 0
CUI: C0221281
Disease: Poikilocytosis
Poikilocytosis
phenotype Finding 14 0.100 None 0
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement
phenotype Laboratory Procedure 15 0.100 None 0
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine
phenotype Finding 19 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
phenotype Finding 87 0.100 None 0
CUI: C4703592
Disease: Elevated hepcidin level
Elevated hepcidin level
phenotype Finding 1 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.020 None 1.000 2 2009 2011
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.020 None 1.000 2 2009 2011
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 247 176 0.030 None 1.000 3 2011 2016
CUI: C0039730
Disease: Thalassemia
Thalassemia
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.030 None 1.000 3 1 2013 2017
CUI: C0472767
Disease: Beta thalassemia intermedia
Beta thalassemia intermedia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 12 0.020 None 1.000 2 2015 2018
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 270 139 0.010 None 1.000 1 1 2018 2018
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2019 2019
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.060 None 1.000 6 5 2011 2019
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.040 None 1.000 4 3 2011 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.040 None 1.000 4 4 2012 2017
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 8 0.010 None 1.000 1 2015 2015
HFE-Associated Hereditary Hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2011 2011
3 beta-Hydroxysteroid dehydrogenase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2002 2002