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
|
|