Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555933851
rs1555933851
ZC4H2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227

2015
dbSNP: rs1555933851
rs1555933851
ZC4H2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		TG 0.700 CausalMutation CLINVAR ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. 23623388

2013