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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
PHKA1
(HGNC:8925)
 Weak Moderate Moderate Weak Strong Strong
PHYH
(HGNC:8940)
 Weak Moderate Weak Weak Strong Strong
PHGDH
(HGNC:8923)
 Weak Moderate Strong Strong Strong Strong
ACADL
(HGNC:88)
 Weak Weak Moderate Weak Strong Moderate
PHKA2
(HGNC:8926)
 Moderate Moderate Moderate Strong Strong Strong
PGAM2
(HGNC:8889)
 Moderate Moderate Weak Moderate Strong Strong
PGM1
(HGNC:8905)
 Moderate Weak Strong Strong Strong Strong
PGM3
(HGNC:8907)
 Weak Moderate Strong Weak Strong Strong
PFN1
(HGNC:8881)
 Weak Weak Moderate Weak Strong Moderate
PGK1
(HGNC:8896)
 Weak Weak Strong Strong Moderate Strong
PFKM
(HGNC:8877)
 Weak Moderate Moderate Strong Strong Strong
PEX16
(HGNC:8857)
 Weak Weak Strong Weak Weak Strong
CFP
(HGNC:8864)
 Moderate Weak Strong Strong Strong Strong
PEX7
(HGNC:8860)
 Moderate Moderate Strong Moderate Strong Strong
PEPD
(HGNC:8840)
 Weak Weak Moderate Strong Strong Strong
PEX12
(HGNC:8854)
 Moderate Moderate Strong Strong Strong Strong
ACAD8
(HGNC:87)
 Weak Weak Strong Weak Strong Strong
PDE6C
(HGNC:8787)
 Weak Moderate Strong Strong Strong Strong
PDHB
(HGNC:8808)
 Weak Weak Weak Strong Strong Strong
PDE6A
(HGNC:8785)
 Weak Strong Strong Strong Strong Strong
Showing 81–100 of 1365