Gene2Phenotype
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G2P VEP Plugin
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Terminology
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ALL
Cancer
DD
Eye
Skin
for:
For example:
CRYBA1
,
ZEB2
,
TBX1
,
CHANARIN-DORFMAN SYNDROME
or
Severe Neurodevelopmental Syndrome
Search results for PPARG
Genes:
PPARG
Panel:
Skin
Gene:
PPARG
Genotype:
monoallelic
Mechanism:
dominant negative
Disease:
Acanthosis Nigricans and insulin resistance syndrome + hypertension
Panel:
Skin
Gene:
PPARG
Genotype:
monoallelic
Mechanism:
dominant negative
Disease:
Lipodystrophy, familial partial type 3