SOX4, SRY-box transcription factor 4, 6659

N. diseases: 246; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C2674608
Disease:
Feeding difficulties in infancy 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0024433
Disease:
Macrostomia 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C1850629
Disease:
Exaggerated cupid's bow 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0431478
Disease:
Posteriorly rotated ear 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0011168
Disease:
Deglutition Disorders 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0009806
Disease:
Constipation 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C1850456
Disease:
Progressive microcephaly 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C1386048
Disease:
Intrauterine retardation 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019
dbSNP: rs1334099693
rs1334099693
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C0018818
Disease:
Ventricular Septal Defects 		A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019