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
PIGN
(HGNC:8967)
 Strong Moderate Moderate Strong Strong Strong
PLA2G4A
(HGNC:9035)
 Moderate Strong Moderate Weak Moderate Strong
PKP1
(HGNC:9023)
 Strong Strong Moderate Strong Strong Strong
PIGL
(HGNC:8966)
 Strong Moderate Moderate Weak Strong Strong
PIK3R2
(HGNC:8980)
 Moderate Moderate Weak Moderate Moderate Moderate
PIK3CG
(HGNC:8978)
 Weak Weak Weak Weak Moderate Moderate
PIK3CB
(HGNC:8976)
 Weak Weak Weak Weak Weak Weak
PHKG2
(HGNC:8931)
 Strong Strong Moderate Strong Strong Strong
SERPINI1
(HGNC:8943)
 Strong Strong Moderate Moderate Strong Strong
PHKA1
(HGNC:8925)
 Strong Strong Moderate Moderate Strong Strong
PHYH
(HGNC:8940)
 Strong Moderate Moderate Weak Strong Strong
PHGDH
(HGNC:8923)
 Strong Strong Moderate Strong Strong Strong
ACADL
(HGNC:88)
 Weak Moderate Weak Weak Moderate Moderate
PHKA2
(HGNC:8926)
 Moderate Moderate Moderate Strong Strong Strong
PGAM2
(HGNC:8889)
 Strong Strong Weak Moderate Moderate Strong
PGM1
(HGNC:8905)
 Strong Strong Moderate Moderate Strong Strong
PGM3
(HGNC:8907)
 Moderate Strong Moderate Moderate Strong Strong
PFN1
(HGNC:8881)
 Moderate Moderate Moderate Strong Strong Moderate
PGK1
(HGNC:8896)
 Strong Strong Moderate Strong Strong Strong
PFKM
(HGNC:8877)
 Strong Moderate Moderate Strong Strong Strong
Showing 741–760 of 2035