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
PPP1CB
(HGNC:9282)
 Strong Strong Moderate Strong Strong Strong
PDP1
(HGNC:9279)
 Moderate Strong Moderate Weak Strong Strong
CTSA
(HGNC:9251)
 Strong Strong Moderate Strong Moderate Strong
B3GAT3
(HGNC:923)
 Moderate Strong Moderate Strong Moderate Strong
PPIB
(HGNC:9255)
 Moderate Strong Moderate Strong Strong Strong
POU4F3
(HGNC:9220)
 Strong Strong Moderate Strong Strong Strong
POLH
(HGNC:9181)
 Strong Strong Moderate Strong Strong Strong
POLR2A
(HGNC:9187)
 Moderate Moderate Weak Weak Strong Moderate
POLG2
(HGNC:9180)
 Moderate Moderate Moderate Weak Moderate Strong
PODXL
(HGNC:9171)
 Moderate Weak Moderate Strong Moderate Moderate
PNKP
(HGNC:9154)
 Strong Moderate Moderate Strong Strong Strong
PML
(HGNC:9113)
 Moderate Weak Weak Strong Weak Strong
PRRX1
(HGNC:9142)
 Moderate Moderate Moderate Moderate Strong Moderate
PLXNA2
(HGNC:9100)
 Weak Weak Weak Weak Moderate Weak
PLS3
(HGNC:9091)
 Strong Strong Moderate Strong Strong Strong
PLOD2
(HGNC:9082)
 Strong Moderate Moderate Moderate Moderate Strong
PLOD1
(HGNC:9081)
 Strong Strong Moderate Strong Moderate Strong
PLAG1
(HGNC:9045)
 Strong Moderate Moderate Moderate Strong Moderate
PLCG1
(HGNC:9065)
 Moderate Moderate Weak Weak Strong Strong
PLCB4
(HGNC:9059)
 Strong Strong Moderate Moderate Moderate Strong
Showing 721–740 of 2035