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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
PURA
(HGNC:9701)
 Moderate Moderate Strong Strong Strong Strong
CAVIN1
(HGNC:9688)
 Strong Moderate Strong Strong Strong Strong
PTPRQ
(HGNC:9679)
 Moderate Strong Strong Strong Moderate Strong
PTPRC
(HGNC:9666)
 Weak Weak Moderate Weak Weak Moderate
PTPN1
(HGNC:9642)
 Weak Weak Weak Moderate Weak Weak
PTK2
(HGNC:9611)
 Weak Weak Weak Moderate Weak Weak
PTHLH
(HGNC:9607)
 Moderate Moderate Moderate Strong Strong Strong
PTH1R
(HGNC:9608)
 Moderate Moderate Moderate Weak Strong Strong
PTH
(HGNC:9606)
 Weak Weak Moderate Moderate Weak Moderate
PTGDS
(HGNC:9592)
 Weak Moderate Weak Strong Strong Strong
PTDSS1
(HGNC:9587)
 Weak Moderate Strong Moderate Strong Strong
PTCH2
(HGNC:9586)
 Weak Moderate Weak Weak Moderate Moderate
PSTPIP1
(HGNC:9580)
 Moderate Weak Weak Strong Moderate Moderate
PSMB8
(HGNC:9545)
 Weak Moderate Strong Strong Strong Strong
PRPS1
(HGNC:9462)
 Weak Weak Moderate Strong Strong Strong
ACAT2
(HGNC:94)
 Weak Moderate Strong Strong Strong Strong
PLPBP
(HGNC:9457)
 Weak Strong Strong Strong Strong Strong
DNAJC3
(HGNC:9439)
 Weak Weak Weak Moderate Weak Weak
PRKRA
(HGNC:9438)
 Weak Weak Moderate Moderate Weak Weak
PRKG1
(HGNC:9414)
 Weak Weak Moderate Strong Weak Weak
Showing 21–40 of 1365