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Proband Tables

Summaries focusing on proband-level evidence; browse by gene.

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Gene Allelic Consistency Phenotypic Consistency Penetrance Ethnic Diversity Inheritance Consistency Mechanism of disease Actions
PODXL
(HGNC:9171)
Weak Weak Moderate Moderate Weak Moderate
PNKP
(HGNC:9154)
Weak Weak Moderate Strong Strong Strong
PML
(HGNC:9113)
Moderate Weak Weak Strong Weak Strong
PRRX1
(HGNC:9142)
Weak Weak Weak Strong Weak Moderate
PLXNA2
(HGNC:9100)
Weak Weak Weak Moderate Weak Weak
PLS3
(HGNC:9091)
Strong Moderate Moderate Strong Strong Strong
PLOD2
(HGNC:9082)
Moderate Moderate Strong Strong Strong Strong
PLOD1
(HGNC:9081)
Moderate Moderate Moderate Strong Strong Strong
PLAG1
(HGNC:9045)
Weak Weak Strong Strong Weak Moderate
PLCG1
(HGNC:9065)
Weak Weak Weak Weak Weak Moderate
PLCB4
(HGNC:9059)
Weak Moderate Moderate Weak Weak Moderate
PIGN
(HGNC:8967)
Moderate Moderate Strong Strong Strong Strong
PLA2G4A
(HGNC:9035)
Moderate Strong Moderate Weak Strong Strong
PKP1
(HGNC:9023)
Moderate Moderate Strong Strong Strong Strong
PIGL
(HGNC:8966)
Moderate Weak Strong Weak Strong Strong
PIK3R2
(HGNC:8980)
Weak Weak Weak Weak Weak Weak
PIK3CG
(HGNC:8978)
Weak Weak Moderate Weak Weak Moderate
PIK3CB
(HGNC:8976)
Weak Weak Weak Weak Weak Weak
PHKG2
(HGNC:8931)
Moderate Weak Moderate Moderate Strong Strong
SERPINI1
(HGNC:8943)
Moderate Moderate Strong Moderate Strong Strong
Showing 61–80 of 1365