SOX17, SRY-box transcription factor 17, 64321

N. diseases: 113; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150927
Disease: VESICOURETERAL REFLUX 3
VESICOURETERAL REFLUX 3
0.600 GeneticVariation disease UNIPROT Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 20960469 2010
CUI: C3150927
Disease: VESICOURETERAL REFLUX 3
VESICOURETERAL REFLUX 3
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 20960469 2010
CUI: C3150927
Disease: VESICOURETERAL REFLUX 3
VESICOURETERAL REFLUX 3
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 20960469 2010
CUI: C3150927
Disease: VESICOURETERAL REFLUX 3
VESICOURETERAL REFLUX 3
0.600 CausalMutation disease CLINVAR
CUI: C3150927
Disease: VESICOURETERAL REFLUX 3
VESICOURETERAL REFLUX 3
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.410 GeneticVariation disease BEFREE We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eight patients with CAKUT (seven vesico-ureteric reflux, one pelvic obstruction). 20960469 2010
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.410 Biomarker disease CTD_human
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux
0.410 Biomarker disease HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.320 Biomarker disease BEFREE SRY-box containing gene 17 (SOX17) was reported to be indispensable for embryonic development and a candidate tumor suppressor gene which antagonizes the canonical WNT/β-catenin signaling pathway in colorectal cancer. 20716954 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.320 PosttranslationalModification disease BEFREE Together, our studies suggest that SOX17 is a negative modulator of canonical Wnt signaling, and that SOX17 silencing due to promoter hypermethylation is an early event during tumorigenesis and may contribute to aberrant activation of Wnt signaling in CRC. 18413743 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.320 Biomarker disease CTD_human Together, our studies suggest that SOX17 is a negative modulator of canonical Wnt signaling, and that SOX17 silencing due to promoter hypermethylation is an early event during tumorigenesis and may contribute to aberrant activation of Wnt signaling in CRC. 18413743 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.310 AlteredExpression group LHGDN Epigenetic inactivation of the canonical Wnt antagonist SRY-box containing gene 17 in colorectal cancer. 18413743 2008
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
0.310 Biomarker group CTD_human Epigenetic inactivation of the canonical Wnt antagonist SRY-box containing gene 17 in colorectal cancer. 18413743 2008
Familial primary pulmonary hypertension
0.300 Biomarker disease GENOMICS_ENGLAND SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. 30044643 2018
2-oxo-hept-3-ene-1,7-dioate hydratase activity
0.300 Biomarker phenotype GENOMICS_ENGLAND SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension. 30044643 2018
CUI: C0232910
Disease: Teratogenesis
Teratogenesis
0.300 Biomarker phenotype CTD_human Decreased nuclear SOX17 in the hPST model was strongly correlated with in vivo teratogenicity. 24154490 2014
CUI: C4706552
Disease: Familial vesicoureteral reflux
Familial vesicoureteral reflux
0.300 GermlineCausalMutation disease ORPHANET Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. 20960469 2010
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1
0.300 Biomarker disease CTD_human
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.210 Biomarker disease BEFREE SOX17 regulates cholangiocyte differentiation and acts as a tumor suppressor in cholangiocarcinoma. 28237397 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma
0.210 ModifyingMutation disease RGD Genes identified as being commonly overexpressed in parent BDEneu cells, tumors, and in a BDEneu tumor-derived cholangiocarcinoma cell line included Sox17, Krt20, Erbb2, and Sphk1 when respectively compared to BDEsp cells, tumors, and tumor-derived BDEsp cholangiocarcinoma cells. 20816680 2010
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.200 Biomarker disease MGD Embryonic cholecystitis and defective gallbladder contraction in the Sox17-haploinsufficient mouse model of biliary atresia. 28432216 2017
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia
0.200 Biomarker disease MGD Our results suggest that Sox17 plays a dosage-dependent function in the morphogenesis and maturation of gallbladder and bile duct epithelia during the late-organogenic stages, highlighting a novel entry point to the understanding of the etiology and pathogenesis of human congenital biliary atresia. 23293295 2013
CUI: C0280725
Disease: Adult Cholangiocarcinoma
Adult Cholangiocarcinoma
0.200 ModifyingMutation disease RGD Differential gene expression profiling of cultured neu-transformed versus spontaneously-transformed rat cholangiocytes and of corresponding cholangiocarcinomas. 20816680 2010
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE Here, we review the roles of SOX17 in cancer and discuss its cross-talk with the WNT/β-catenin pathway, potentially reconciling its activity as re-engineered reprogramming factor and mutated cancer driver gene. 31419525 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 Biomarker group BEFREE The SoxF family (SOX7, SOX17, SOX18) plays an important role in angio- and lymphangiogenesis, with SOX18 seemingly being an attractive target for anti-angiogenic therapy and the treatment of metastatic disease in cancer. 30914279 2019