SOX17, SRY-box transcription factor 17, 64321

N. diseases: 113; N. variants: 2
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: C0232910
Disease: Teratogenesis
Teratogenesis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 1 0.300 None 1.000 1 2014 2014
CUI: C3150927
Disease: VESICOURETERAL REFLUX 3
VESICOURETERAL REFLUX 3 		disease Disease or Syndrome 1 2 0.600 None 1.000 1 2 2010 2010
CUI: C0333245
Disease: Massive edema
Massive edema 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 2 0.010 None 1.000 1 2015 2015
CUI: C0346203
Disease: Cervical Adenocarcinoma In Situ
Cervical Adenocarcinoma In Situ 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 0.010 None 1.000 1 2020 2020
CUI: C4706552
Disease: Familial vesicoureteral reflux
Familial vesicoureteral reflux 		disease Congenital Abnormality 6 0.300 None 1.000 1 2010 2010
CUI: C0280725
Disease: Adult Cholangiocarcinoma
Adult Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 13 0.200 None 1.000 1 2010 2010
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		phenotype Molecular Function 14 0.300 strong 1.000 1 2018 2018
CUI: C1701938
Disease: Associated Pulmonary Arterial Hypertension
Associated Pulmonary Arterial Hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 22 4 0.020 None 1.000 2 2018 2019
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.300 strong 1.000 1 2018 2018
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.010 None 1.000 1 2018 2018
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 23 0.010 None 1.000 1 2011 2011
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 47 10 0.300 None 0
CUI: C0334276
Disease: Adenocarcinoma in Situ
Adenocarcinoma in Situ 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 55 0.010 None < 0.001 1 2020 2020
CUI: C0030283
Disease: Pancreatic Cyst
Pancreatic Cyst 		disease Digestive System Diseases; Neoplasms Disease or Syndrome 60 4 0.010 None 1.000 1 2017 2017
CUI: C0279014
Disease: Childhood Germ Cell Tumor
Childhood Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2020 2020
CUI: C3900101
Disease: Adult Germ Cell Tumor
Adult Germ Cell Tumor 		disease Neoplasms Neoplastic Process 62 0.010 None 1.000 1 2020 2020
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 66 7 0.010 None 1.000 1 2014 2014
CUI: C0014145
Disease: Yolk Sac Tumor
Yolk Sac Tumor 		disease Neoplasms Neoplastic Process 68 2 0.010 None 1.000 1 2008 2008
CUI: C1968949
Disease: Cakut
Cakut 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.010 None 1.000 1 2012 2012
CUI: C0521620
Disease: Dilatation of ureter
Dilatation of ureter 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 72 2 0.100 None 0
CUI: C0334533
Disease: Arteriovenous hemangioma
Arteriovenous hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process 76 14 0.010 None 1.000 1 2016 2016
CUI: C0279672
Disease: Cervical Adenocarcinoma
Cervical Adenocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 82 0.010 None 1.000 1 2011 2011
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
Idiopathic hypogonadotropic hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 82 66 0.010 None 1.000 1 2018 2018
CUI: C0349530
Disease: Early gastric cancer
Early gastric cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 100 2 0.010 None 1.000 1 2012 2012
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 130 4 0.010 None < 0.001 1 2019 2019