Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		disease 0.400 strong 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0009806
Disease: Constipation
Constipation 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 1.000 1 1 2019 2019
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		SRY-box transcription factor 4 0.489 0.808 0.93
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype 0.100 None 1.000 1 1 2019 2019