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
GABRB2
(HGNC:4082)
 Strong Strong Moderate Weak Strong Strong
GABRA5
(HGNC:4079)
 Moderate Moderate Weak Moderate Moderate Moderate
GABPA
(HGNC:4071)
 Weak Weak Weak Weak Weak Weak
SLC37A4
(HGNC:4061)
 Moderate Moderate Strong Strong Strong Strong
GABRA2
(HGNC:4076)
 Moderate Moderate Strong Moderate Strong Strong
FZD6
(HGNC:4044)
 Moderate Moderate Moderate Strong Moderate Moderate
ACKR1
(HGNC:4035)
 Moderate Weak Weak Moderate Moderate Moderate
FXYD2
(HGNC:4026)
 Strong Moderate Moderate Moderate Moderate Moderate
ALB
(HGNC:399)
 Strong Strong Moderate Strong Strong Strong
KDSR
(HGNC:4021)
 Moderate Strong Moderate Weak Strong Strong
FUT1
(HGNC:4012)
 Moderate Strong Strong Strong Strong Strong
FUCA1
(HGNC:4006)
 Strong Strong Moderate Strong Strong Strong
FTL
(HGNC:3999)
 Strong Moderate Moderate Strong Moderate Strong
FSHB
(HGNC:3964)
 Strong Strong Moderate Moderate Strong Strong
ALAD
(HGNC:395)
 Strong Strong Moderate Moderate Moderate Strong
FOXJ1
(HGNC:3816)
 Strong Moderate Moderate Moderate Strong Strong
AKR1D1
(HGNC:388)
 Strong Strong Moderate Weak Strong Strong
AKR1C3
(HGNC:386)
 Weak Weak Weak Weak Weak Weak
FOXF2
(HGNC:3810)
 Moderate Weak Moderate Moderate Weak Moderate
FOLR1
(HGNC:3791)
 Strong Strong Moderate Strong Strong Strong
Showing 1081–1100 of 2035