SLC26A4, solute carrier family 26 member 4, 5172

N. diseases: 194; N. variants: 174
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: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.020 None 0.500 2 2001 2004
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1999 2014
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		disease Neoplastic Process 151 3 0.020 None 1.000 2 2018 2018
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		disease Disease or Syndrome 4 0.020 None 1.000 2 2012 2013
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		disease Disease or Syndrome 133 54 0.020 None 1.000 2 2003 2013
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2007 2007
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None < 0.001 1 2013 2013
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		phenotype Laboratory Procedure 42 79 0.100 None 1.000 1 1 2018 2018
CUI: C0311237
Disease: Goniodysgenesis
Goniodysgenesis 		disease Congenital Abnormality 6 3 0.010 None 1.000 1 2001 2001
CUI: C0395941
Disease: Mondini defect
Mondini defect 		disease Congenital Abnormality 1 0.300 strong 1.000 1 2002 2002
CUI: C4023392
Disease: Incomplete partition of the cochlea
Incomplete partition of the cochlea 		disease Anatomical Abnormality 2 0.010 None 1.000 1 2005 2005
CUI: C4288936
Disease: Hyperkalemic Mineralocorticoid Resistance
Hyperkalemic Mineralocorticoid Resistance 		disease Disease or Syndrome 22 3 0.010 None 1.000 1 2018 2018
CUI: C4524092
Disease: Chronic rhinosinusitis with nasal polyps
Chronic rhinosinusitis with nasal polyps 		disease Neoplastic Process 168 1 0.010 None 1.000 1 2019 2019
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		disease Neoplastic Process 167 41 0.010 None 1.000 1 2004 2004
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.010 None 1.000 1 2013 2013
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 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 2
CUI: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		phenotype Finding 16 0.100 None 0
CUI: C1862050
Disease: Cochlear malformation
Cochlear malformation 		phenotype Finding 5 0.100 None 0
CUI: C2676974
Disease: Hypoplasia of the cochlea
Hypoplasia of the cochlea 		phenotype Finding 7 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.060 None 1.000 6 2 2009 2019