Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 GeneticVariation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 CausalMutation CLINVAR

Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.100 CausalMutation CLINVAR