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
GHSR
(HGNC:4267)
 Moderate Moderate Moderate Moderate Moderate Moderate
GFI1B
(HGNC:4238)
 Moderate Strong Moderate Weak Moderate Moderate
GDF1
(HGNC:4214)
 Weak Moderate Strong Weak Strong Strong
GALNT3
(HGNC:4125)
 Strong Strong Moderate Strong Strong Strong
ISG15
(HGNC:4053)
 Strong Moderate Moderate Strong Strong Strong
FYN
(HGNC:4037)
 Weak Weak Weak Weak Weak Weak
FUBP1
(HGNC:4004)
 Weak Weak Weak Weak Weak Weak
KCNJ18
(HGNC:39080)
 Moderate Strong Weak Moderate Moderate Moderate
IGLL5
(HGNC:38476)
 Weak Weak Weak Weak Weak Weak
FOLH1
(HGNC:3788)
 Weak Weak Weak Weak Weak Weak
TMEM231
(HGNC:37234)
 Strong Strong Moderate Moderate Strong Strong
FIBP
(HGNC:3705)
 Strong Strong Moderate Weak Strong Strong
FHL1
(HGNC:3702)
 Strong Moderate Moderate Strong Strong Strong
FGF19
(HGNC:3675)
 Weak Weak Weak Weak Weak Weak
FGF13
(HGNC:3670)
 Weak Weak Weak Moderate Moderate Moderate
MYOF
(HGNC:3656)
 Weak Weak Weak Weak Weak Weak
FDXR
(HGNC:3642)
 Moderate Moderate Weak Moderate Moderate Moderate
AK2
(HGNC:362)
 Strong Strong Moderate Moderate Strong Strong
FCN3
(HGNC:3625)
 Strong Moderate Moderate Moderate Strong Strong
FAT2
(HGNC:3596)
 Weak Weak Weak Moderate Moderate Weak
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