ZC4H2, zinc finger C4H2-type containing, 55906

N. diseases: 151; N. variants: 13
Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044863
rs797044863
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. 26056227 2015
dbSNP: rs797044863
rs797044863
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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