SLC5A5, solute carrier family 5 member 5, 6528

N. diseases: 195; N. variants: 8
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.
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.100 None 0.933 15 2000 2019
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.100 None 1.000 10 2000 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.040 None 1.000 4 2009 2019
Oestrogen receptor positive breast cancer
disease Neoplastic Process 510 58 0.020 None 1.000 2 2000 2008
estrogen receptor-negative breast cancer
disease Neoplastic Process 356 40 0.020 None 1.000 2 2008 2015
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2004 2004
Mixed follicular and papillary thyroid carcinoma
disease Neoplastic Process 31 8 0.010 None 1.000 1 2018 2018
CUI: C0742558
Disease: colon cancer liver metastasis
colon cancer liver metastasis
disease Neoplastic Process 14 0.010 None 1.000 1 2015 2015
CUI: C0919747
Disease: Cytokine storm
Cytokine storm
disease Disease or Syndrome 97 0.010 None 1.000 1 2016 2016
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0456132
Disease: Large fontanelle
Large fontanelle
phenotype Finding 77 3 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 75 17 0.010 None 1.000 1 2019 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2009 2009
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2020 2020
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 2017 2019
CUI: C3178806
Disease: Right Atrial Isomerism
Right Atrial Isomerism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 14 0.020 None 1.000 2 2019 2020
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.100 None 1.000 14 1 1998 2019
CUI: C0271826
Disease: Iodide transport defect
Iodide transport defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 5 2 0.100 None 0.917 12 2 1998 2012
CUI: C1848805
Disease: Thyroid Dyshormonogenesis 1
Thyroid Dyshormonogenesis 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 6 7 0.700 None 1.000 8 7 1997 2016
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 11 5 0.020 None 0.500 2 2014 2018
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 9 19 0.010 None 1.000 1 2012 2012