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
PEX16
(HGNC:8857)
 Moderate Moderate Weak Weak Moderate Moderate
CFP
(HGNC:8864)
 Moderate Moderate Moderate Strong Strong Moderate
PEX7
(HGNC:8860)
 Moderate Strong Moderate Moderate Strong Strong
PEPD
(HGNC:8840)
 Strong Strong Moderate Strong Strong Strong
PEX12
(HGNC:8854)
 Moderate Moderate Moderate Weak Strong Strong
ACAD8
(HGNC:87)
 Moderate Moderate Weak Moderate Strong Strong
PDE6C
(HGNC:8787)
 Strong Strong Moderate Strong Strong Strong
PDHB
(HGNC:8808)
 Moderate Strong Moderate Moderate Strong Strong
PDE6A
(HGNC:8785)
 Strong Strong Moderate Strong Strong Strong
PDE3A
(HGNC:8778)
 Strong Strong Moderate Strong Strong Strong
PDE11A
(HGNC:8773)
 Moderate Moderate Weak Strong Moderate Moderate
AIFM1
(HGNC:8768)
 Moderate Moderate Moderate Strong Strong Moderate
PDCD10
(HGNC:8761)
 Strong Strong Moderate Strong Strong Strong
ATP6AP1
(HGNC:868)
 Strong Strong Moderate Strong Strong Strong
ATP6V0A4
(HGNC:866)
 Strong Strong Moderate Strong Moderate Moderate
PBX1
(HGNC:8632)
 Strong Moderate Moderate Moderate Strong Strong
PAX1
(HGNC:8615)
 Strong Strong Moderate Moderate Strong Strong
PARN
(HGNC:8609)
 Strong Moderate Moderate Moderate Moderate Strong
PAPSS2
(HGNC:8604)
 Strong Moderate Moderate Strong Strong Strong
PAK2
(HGNC:8591)
 Moderate Moderate Moderate Strong Moderate Moderate
Showing 761–780 of 2035