SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
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: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.100 None 1.000 12 1996 2019
CUI: C0001079
Disease: Achondrogenesis
Achondrogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0.050 None 1.000 5 1997 2019
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 142 0.040 None 1.000 4 1999 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.030 None 1.000 3 1992 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 632 63 0.020 None 1.000 2 2016 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.120 None 1.000 2 2005 2015
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 1999 2014
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.010 None 1.000 1 2013 2013
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 9 0.010 None 1.000 1 2012 2012
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2019 2019
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 945 50 0.010 None 1.000 1 2012 2012
CUI: C0025500
Disease: Mesothelioma
Mesothelioma 		disease Neoplasms Neoplastic Process 560 4 0.010 None < 0.001 1 1992 1992
CUI: C0024894
Disease: Mastitis
Mastitis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 103 1 0.010 None 1.000 1 2018 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.010 None 1.000 1 2000 2000
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 1992 1992
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.010 None 1.000 1 2001 2001
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.010 None 1.000 1 2007 2007
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 1 2008 2008
CUI: C0038018
Disease: Spondylolysis
Spondylolysis 		disease Musculoskeletal Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2015 2015
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.110 None 1.000 1 2002 2002
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 39 3 0.010 None 1.000 1 2013 2013
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 24 0.010 None 1.000 1 2019 2019
CUI: C0029899
Disease: Otosclerosis
Otosclerosis 		disease Otorhinolaryngologic Diseases Disease or Syndrome 49 11 0.010 None 1.000 1 2003 2003
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.010 None 1.000 1 2013 2013
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.010 None 1.000 1 2009 2009