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
HOXA13
(HGNC:5102)
 Strong Strong Moderate Moderate Moderate Strong
HOXA11
(HGNC:5101)
 Moderate Weak Moderate Moderate Weak Moderate
HNRNPU
(HGNC:5048)
 Strong Strong Weak Moderate Moderate Strong
HMGCS2
(HGNC:5008)
 Strong Strong Moderate Strong Strong Strong
FOXA2
(HGNC:5022)
 Moderate Moderate Moderate Weak Strong Strong
HNRNPK
(HGNC:5044)
 Strong Strong Moderate Moderate Strong Strong
MNX1
(HGNC:4979)
 Strong Strong Moderate Strong Moderate Strong
HLCS
(HGNC:4976)
 Strong Strong Moderate Strong Strong Strong
RIPK4
(HGNC:496)
 Strong Strong Moderate Strong Strong Strong
HK1
(HGNC:4922)
 Moderate Weak Moderate Strong Weak Moderate
HINT1
(HGNC:4912)
 Strong Strong Moderate Strong Strong Strong
HIBCH
(HGNC:4908)
 Strong Strong Moderate Strong Strong Strong
HERC2
(HGNC:4868)
 Strong Moderate Moderate Moderate Moderate Strong
HGD
(HGNC:4892)
 Moderate Moderate Strong Moderate Strong Strong
HCN1
(HGNC:4845)
 Moderate Moderate Moderate Moderate Moderate Moderate
HCCS
(HGNC:4837)
 Strong Moderate Moderate Moderate Strong Strong
HARS1
(HGNC:4816)
 Strong Moderate Moderate Weak Moderate Strong
HBZ
(HGNC:4835)
 Moderate Moderate Weak Strong Moderate Moderate
HSD17B10
(HGNC:4800)
 Moderate Strong Moderate Strong Strong Strong
HAND2
(HGNC:4808)
 Moderate Strong Strong Weak Strong Strong
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