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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
GDF2
(HGNC:4217)
 Moderate Weak Weak Moderate Moderate Moderate
GCM2
(HGNC:4198)
 Weak Weak Moderate Weak Weak Moderate
GCGR
(HGNC:4192)
 Weak Moderate Weak Weak Moderate Strong
GATM
(HGNC:4175)
 Moderate Weak Moderate Moderate Weak Strong
ALDOA
(HGNC:414)
 Weak Weak Strong Weak Strong Strong
GAN
(HGNC:4137)
 Weak Moderate Strong Strong Strong Strong
GANAB
(HGNC:4138)
 Weak Weak Moderate Strong Strong Strong
GALE
(HGNC:4116)
 Weak Moderate Moderate Strong Strong Strong
ALDH1A3
(HGNC:409)
 Weak Moderate Weak Strong Moderate Strong
GABRB1
(HGNC:4081)
 Weak Weak Strong Moderate Moderate Strong
GABRB2
(HGNC:4082)
 Weak Weak Strong Weak Strong Strong
GABRA5
(HGNC:4079)
 Moderate Weak Weak Weak Weak 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)
 Weak Moderate Weak Strong Moderate Strong
ACKR1
(HGNC:4035)
 Moderate Weak Weak Strong Weak Moderate
FXYD2
(HGNC:4026)
 Strong Moderate Strong Moderate Strong Strong
ALB
(HGNC:399)
 Weak Weak Moderate Strong Weak Strong
KDSR
(HGNC:4021)
 Weak Moderate Strong Weak Strong Moderate
Showing 401–420 of 1365