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
OSGEP
(HGNC:18028)
 Strong Strong Moderate Strong Strong Strong
MOCOS
(HGNC:18234)
 Moderate Moderate Moderate Moderate Moderate Moderate
HAVCR2
(HGNC:18437)
 Strong Weak Weak Moderate Weak Strong
WIF1
(HGNC:18081)
 Weak Weak Moderate Weak Moderate Weak
MYO18B
(HGNC:18150)
 Strong Moderate Weak Weak Strong Strong
EMSY
(HGNC:18071)
 Weak Weak Weak Weak Weak Weak
TMC6
(HGNC:18021)
 Strong Strong Strong Moderate Strong Strong
NAGS
(HGNC:17996)
 Strong Strong Moderate Strong Strong Strong
TRPM7
(HGNC:17994)
 Weak Weak Moderate Moderate Moderate Moderate
B3GALT6
(HGNC:17978)
 Moderate Strong Moderate Moderate Moderate Strong
IRAK4
(HGNC:17967)
 Strong Strong Moderate Moderate Strong Strong
EXOSC3
(HGNC:17944)
 Strong Strong Moderate Moderate Strong Strong
NT5C3A
(HGNC:17820)
 Strong Strong Moderate Moderate Strong Strong
PGAP2
(HGNC:17893)
 Moderate Strong Moderate Strong Strong Strong
NMNAT1
(HGNC:17877)
 Strong Moderate Moderate Strong Strong Strong
INVS
(HGNC:17870)
 Strong Moderate Moderate Moderate Moderate Strong
NGLY1
(HGNC:17646)
 Moderate Moderate Strong Strong Strong Strong
ACY1
(HGNC:177)
 Strong Moderate Moderate Weak Strong Strong
TDP2
(HGNC:17768)
 Strong Moderate Moderate Moderate Strong Strong
CDH3
(HGNC:1762)
 Strong Strong Moderate Strong Strong Strong
Showing 1621–1640 of 2035