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.
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
CUI: C4316788
Disease: Abnormality of the intestine
Abnormality of the intestine
phenotype Finding 19 0.100 None 0
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.010 None 1.000 1 2019 2019
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.010 None 1.000 1 1 2001 2001
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: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.090 None 1.000 9 1 2009 2018
CUI: C2698117
Disease: Anisocyte Measurement
Anisocyte Measurement
phenotype Laboratory Procedure 15 0.100 None 0
CUI: C0221278
Disease: Anisocytosis
Anisocytosis
phenotype Finding 16 1 0.100 None 0
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: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
phenotype Laboratory Procedure 56 535 0.100 None 1.000 1 1 2018 2018
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2001 2001
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 2 1998 2013
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2001 2001
CUI: C0007570
Disease: Celiac Disease
Celiac Disease
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.010 None 1.000 1 3 2018 2018
CUI: C1695782
Disease: Cerebral hypoperfusion
Cerebral hypoperfusion
disease Disease or Syndrome 40 1 0.010 None 1.000 1 2017 2017
Childhood Acute Lymphoblastic Leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1096 261 0.010 None 1.000 1 2 2014 2014
CUI: C0740989
Disease: Chronic iron deficiency anaemia
Chronic iron deficiency anaemia
disease Disease or Syndrome 2 0.010 None 1.000 1 2010 2010
CUI: C0009319
Disease: Colitis
Colitis
disease Digestive System Diseases Disease or Syndrome 1135 15 0.010 None 1.000 1 2014 2014
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2019 2019
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 9 43 2010 2019
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: C0011581
Disease: Depressive disorder
Depressive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.020 None 1.000 2 2009 2011
CUI: C0011847
Disease: Diabetes
Diabetes
disease Endocrine System Diseases Disease or Syndrome 2359 710 0.020 None 1.000 2 2017 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.020 None 1.000 2 2017 2018