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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
DNAJB2
(HGNC:5228)
 Weak Weak Moderate Moderate Weak Moderate
HSF4
(HGNC:5227)
 Weak Moderate Strong Strong Weak Strong
HRG
(HGNC:5181)
 Weak Weak Weak Weak Strong Moderate
HR
(HGNC:5172)
 Weak Weak Moderate Strong Weak Moderate
DUX4
(HGNC:50800)
 Moderate Moderate Weak Weak Strong Strong
HPD
(HGNC:5147)
 Weak Weak Strong Strong Strong Strong
HOXD13
(HGNC:5136)
 Weak Weak Weak Strong Moderate Moderate
HOXC13
(HGNC:5125)
 Weak Moderate Strong Strong Moderate Moderate
HOXD10
(HGNC:5133)
 Weak Weak Moderate Weak Moderate Moderate
HOXA9
(HGNC:5109)
 Moderate Weak Strong Moderate Weak Moderate
HOXA13
(HGNC:5102)
 Weak Moderate Strong Strong Moderate Moderate
HOXA11
(HGNC:5101)
 Weak Weak Weak Weak Weak Moderate
HNRNPU
(HGNC:5048)
 Moderate Moderate Strong Weak Strong Strong
HMGCS2
(HGNC:5008)
 Moderate Moderate Moderate Strong Strong Strong
FOXA2
(HGNC:5022)
 Moderate Moderate Strong Moderate Strong Strong
HNRNPK
(HGNC:5044)
 Moderate Weak Strong Strong Strong Strong
MNX1
(HGNC:4979)
 Weak Moderate Moderate Strong Weak Moderate
HLCS
(HGNC:4976)
 Moderate Strong Strong Strong Strong Strong
RIPK4
(HGNC:496)
 Moderate Weak Strong Strong Strong Strong
HK1
(HGNC:4922)
 Moderate Weak Moderate Strong Weak Moderate
Showing 321–340 of 1365