SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
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: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 539 19 0.010 None < 0.001 1 2006 2006
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease
disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 107 15 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2019 2019
CUI: C0205824
Disease: Liposarcoma, Dedifferentiated
Liposarcoma, Dedifferentiated
disease Neoplasms Neoplastic Process 95 0.010 None 1.000 1 2017 2017
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.010 None 1.000 1 1999 1999
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 498 75 0.010 None < 0.001 1 2006 2006
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 205 0.010 None 1.000 1 2017 2017
CUI: C0271728
Disease: Secondary hyperaldosteronism
Secondary hyperaldosteronism
disease Endocrine System Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 1 2005 2005
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None 1.000 1 2018 2018
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2019 2019
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None 1.000 1 2018 2018
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2019 2019
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2013 2013
CUI: C0338437
Disease: Neurocysticercosis
Neurocysticercosis
disease Infections; Nervous System Diseases Disease or Syndrome 34 9 0.010 None 1.000 1 2019 2019
CUI: C0342443
Disease: Adrenal Cushing's syndrome
Adrenal Cushing's syndrome
disease Endocrine System Diseases Disease or Syndrome 120 9 0.010 None 1.000 1 2018 2018
Hypocalciuric hypercalcemia, familial, type 1
disease Nutritional and Metabolic Diseases Disease or Syndrome 46 58 0.010 None 1.000 1 2007 2007
CUI: C0403719
Disease: Uric acid urolithiasis
Uric acid urolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
Congenital bilateral aplasia of vas deferens
disease Male Urogenital Diseases Congenital Abnormality 27 210 0.010 None 1.000 1 2018 2018
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 47 27 0.010 None 1.000 1 2011 2011
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.010 None 1.000 1 2001 2001
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42 0.010 None 1.000 1 2017 2017
CUI: C0030193
Disease: Pain
Pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.010 None 1.000 1 2019 2019
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 71 79 0.010 None 1.000 1 2004 2004
CUI: C0032326
Disease: Pneumothorax
Pneumothorax
phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 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 2004 2004