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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
FGD1
(HGNC:3663)
 Moderate Weak Moderate Strong Strong Strong
FBP1
(HGNC:3606)
 Moderate Strong Strong Strong Strong Strong
F13B
(HGNC:3534)
 Weak Weak Strong Strong Strong Strong
FBLN5
(HGNC:3602)
 Moderate Moderate Weak Moderate Weak Moderate
EYA4
(HGNC:3522)
 Weak Moderate Strong Strong Strong Strong
ETS1
(HGNC:3488)
 Weak Weak Weak Weak Weak Moderate
MECOM
(HGNC:3498)
 Weak Weak Weak Strong Weak Weak
BHLHA9
(HGNC:35126)
 Weak Weak Moderate Strong Weak Moderate
EVC
(HGNC:3497)
 Moderate Strong Strong Strong Strong Strong
ERF
(HGNC:3444)
 Moderate Weak Moderate Weak Strong Moderate
ETFB
(HGNC:3482)
 Weak Moderate Strong Weak Strong Moderate
AHCY
(HGNC:343)
 Moderate Weak Moderate Strong Strong Strong
EPOR
(HGNC:3416)
 Moderate Weak Weak Strong Strong Strong
ERCC8
(HGNC:3439)
 Weak Moderate Strong Strong Strong Strong
EPM2A
(HGNC:3413)
 Weak Moderate Strong Strong Strong Strong
EPHB4
(HGNC:3395)
 Moderate Moderate Strong Weak Strong Strong
ACOD1
(HGNC:33904)
 Weak Moderate Strong Moderate Strong Strong
EPHA2
(HGNC:3386)
 Moderate Weak Moderate Strong Moderate Strong
EPB42
(HGNC:3381)
 Moderate Moderate Moderate Strong Strong Strong
EMD
(HGNC:3331)
 Moderate Weak Strong Strong Moderate Strong
Showing 441–460 of 1365