FIGURE

Fig. 4

ID

ZDB-FIG-200901-4

Publication

Izarzugaza et al., 2020 - Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease

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Fig. 4

Distribution of MPC and CADD scores of rare variants in 714 CHD cases and 4922 controls. Protein altering and truncating variants (PAV and PTV) with MAF < 0.001 identified in the genes ADCY2, ADCY5, CACNA1D, CACNA1H, CACNA1I, CACNA1S, GRIA4, ITPR1, NFAT5, and PLCB2 were scored using MPC score [22] (a) or CADD score [21] (b). N_CHD = 136 variants. N_Controls = 982 variants. Difference between median values of controls and cases was determined using a Mann-Whitney rank-sum test. **p < 0.01, *p < 0.05

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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