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
DNAJC6
(HGNC:15469)
 Moderate Moderate Moderate Moderate Moderate Moderate
P2RX2
(HGNC:15459)
 Moderate Strong Moderate Strong Strong Moderate
MBTPS1
(HGNC:15456)
 Strong Moderate Moderate Strong Moderate Strong
MBTPS2
(HGNC:15455)
 Strong Strong Moderate Strong Strong Strong
CASQ2
(HGNC:1513)
 Moderate Moderate Moderate Strong Moderate Moderate
PXDN
(HGNC:14966)
 Moderate Moderate Moderate Moderate Moderate Moderate
PUM1
(HGNC:14957)
 Moderate Moderate Moderate Weak Strong Moderate
TSGA10
(HGNC:14927)
 Strong Strong Moderate Moderate Strong Strong
SPTBN4
(HGNC:14896)
 Moderate Strong Moderate Moderate Strong Strong
DNAJB11
(HGNC:14889)
 Strong Moderate Moderate Moderate Moderate Strong
COL5A3
(HGNC:14864)
 Weak Weak Weak Weak Weak Weak
FYCO1
(HGNC:14673)
 Strong Strong Moderate Strong Strong Strong
ARHGEF9
(HGNC:14561)
 Moderate Strong Moderate Moderate Strong Strong
GAB2
(HGNC:14458)
 Weak Weak Weak Weak Weak Weak
ELOVL1
(HGNC:14418)
 Moderate Strong Moderate Weak Moderate Strong
MMP21
(HGNC:14357)
 Moderate Strong Weak Moderate Strong Strong
MRTFA
(HGNC:14334)
 Strong Moderate Moderate Weak Strong Strong
IFT81
(HGNC:14313)
 Moderate Moderate Weak Weak Strong Strong
BLNK
(HGNC:14211)
 Moderate Strong Moderate Weak Strong Strong
JPH2
(HGNC:14202)
 Moderate Moderate Moderate Strong Moderate Moderate
Showing 481–500 of 2035