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
PTCH2
(HGNC:9586)
 Weak Weak Weak Moderate Moderate Weak
PSTPIP1
(HGNC:9580)
 Strong Moderate Moderate Strong Moderate Strong
PSMB8
(HGNC:9545)
 Moderate Strong Weak Strong Moderate Strong
PRPS1
(HGNC:9462)
 Strong Moderate Moderate Strong Strong Strong
ACAT2
(HGNC:94)
 Moderate Strong Moderate Strong Strong Strong
PLPBP
(HGNC:9457)
 Strong Strong Moderate Strong Strong Strong
DNAJC3
(HGNC:9439)
 Moderate Strong Moderate Moderate Moderate Strong
PRKRA
(HGNC:9438)
 Moderate Strong Moderate Moderate Strong Moderate
PRKG1
(HGNC:9414)
 Moderate Weak Moderate Moderate Weak Moderate
PRKD1
(HGNC:9407)
 Moderate Moderate Moderate Moderate Strong Moderate
PRKCG
(HGNC:9402)
 Strong Strong Strong Strong Strong Strong
PRKCD
(HGNC:9399)
 Strong Strong Moderate Strong Strong Strong
PRDM5
(HGNC:9349)
 Strong Moderate Moderate Strong Moderate Moderate
PRKCA
(HGNC:9393)
 Weak Weak Weak Weak Moderate Weak
PRDM1
(HGNC:9346)
 Weak Weak Weak Weak Weak Weak
PQBP1
(HGNC:9330)
 Strong Strong Moderate Strong Strong Strong
PRB2
(HGNC:9338)
 Moderate Moderate Moderate Weak Strong Moderate
PPP3CA
(HGNC:9314)
 Strong Strong Weak Moderate Strong Strong
PPP2R5D
(HGNC:9312)
 Strong Strong Moderate Moderate Strong Strong
B4GALT7
(HGNC:930)
 Strong Strong Moderate Strong Strong Strong
Showing 701–720 of 2035