SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation disease BEFREE Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. 30661772 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease GENOMICS_ENGLAND Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. 30661772 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.400 GeneticVariation disease CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.400 Biomarker disease GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Using trio-based exome sequencing, we here identify de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. 30661772 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.310 Biomarker disease LHGDN Microarray RNA gene expression profiling analysis has shown that Sox4 (Sry-related high mobility group (HMG) box 4) is one of the most upregulated genes in adenoid cystic carcinoma (ACC), relative to non-neoplastic tissue of origin. 16636670 2006
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.310 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.300 GermlineCausalMutation disease ORPHANET Extremely Low Prevalence of Takotsubo Cardiomyopathy and Transient Cardiac Dysfunction in Stroke Patients With T-wave Abnormalities. 30661722 2019
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.300 Biomarker group GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
CUI: C0456070
Disease: Growth delay
Growth delay 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1959583
Disease: Myocardial Failure
Myocardial Failure 		0.300 Biomarker disease CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C1961112
Disease: Heart Decompensation
Heart Decompensation 		0.300 Biomarker phenotype CTD_human A context-specific cardiac β-catenin and GATA4 interaction influences TCF7L2 occupancy and remodels chromatin driving disease progression in the adult heart. 29394407 2018
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.300 Biomarker group GENOMICS_ENGLAND Gene network analysis of candidate loci for human anorectal malformations. 23936318 2013
CUI: C0019207
Disease: Hepatoma, Morris
Hepatoma, Morris 		0.300 Biomarker disease CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011
CUI: C0019208
Disease: Hepatoma, Novikoff
Hepatoma, Novikoff 		0.300 Biomarker disease CTD_human Gene expression and mutation assessment provide clues of genetic and epigenetic mechanisms in liver tumors of oxazepam-exposed mice. 21147764 2011