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
MASP1
(HGNC:6901)
 Moderate Strong Weak Weak Strong Strong
ABCD4
(HGNC:68)
 Strong Moderate Moderate Strong Strong Strong
MARS1
(HGNC:6898)
 Moderate Moderate Moderate Moderate Moderate Moderate
MAN2B1
(HGNC:6826)
 Strong Moderate Moderate Strong Strong Strong
MAPRE3
(HGNC:6892)
 Weak Weak Weak Weak Weak Weak
MAP3K7
(HGNC:6859)
 Moderate Moderate Moderate Moderate Strong Moderate
MANBA
(HGNC:6831)
 Strong Strong Moderate Moderate Strong Strong
MAN1B1
(HGNC:6823)
 Strong Strong Moderate Strong Strong Strong
MALT1
(HGNC:6819)
 Strong Strong Moderate Moderate Strong Strong
MAGEL2
(HGNC:6814)
 Strong Strong Moderate Strong Strong Strong
MAG
(HGNC:6783)
 Moderate Strong Moderate Strong Strong Strong
MAF
(HGNC:6776)
 Strong Strong Moderate Strong Strong Strong
ARHGAP4
(HGNC:674)
 Moderate Weak Moderate Moderate Strong Weak
CAPRIN1
(HGNC:6743)
 Strong Moderate Moderate Weak Strong Strong
LYZ
(HGNC:6740)
 Strong Strong Moderate Strong Strong Strong
LSS
(HGNC:6708)
 Strong Moderate Moderate Strong Strong Strong
LTBP4
(HGNC:6717)
 Strong Strong Moderate Strong Strong Strong
LRP4
(HGNC:6696)
 Strong Moderate Moderate Strong Strong Strong
LRPAP1
(HGNC:6701)
 Moderate Strong Weak Weak Strong Moderate
LNX1
(HGNC:6657)
 Moderate Moderate Moderate Moderate Moderate Moderate
Showing 881–900 of 2035