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
|
|