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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
G6PC1
(HGNC:4056)
|
glycogen storage disease due to glucose-6-phosphatase deficiency type IA
(MONDO_0009287)
|
Definitive
|
|
|
FZD2
(HGNC:4040)
|
autosomal dominant omodysplasia
(MONDO_0008123)
|
Moderate
|
|
|
XRCC6
(HGNC:4055)
|
autism spectrum disorder
(MONDO_0005258)
|
Limited
|
|
|
FZD4
(HGNC:4042)
|
persistent hyperplastic primary vitreous
(MONDO_0019631)
|
Disputed
|
|
|
ALDH3A2
(HGNC:403)
|
Sjogren-Larsson syndrome
(MONDO_0010031)
|
Definitive
|
|
|
FXR1
(HGNC:4023)
|
congenital myopathy
(MONDO_0019952)
|
Moderate
|
|
|
KDSR
(HGNC:4021)
|
erythrokeratodermia variabilis
(MONDO_0017851)
|
Moderate
|
|
|
FUS
(HGNC:4010)
|
juvenile amyotrophic lateral sclerosis
(MONDO_0017593)
|
Strong
|
|
|
FUS
(HGNC:4010)
|
amyotrophic lateral sclerosis type 6
(MONDO_0011951)
|
Strong
|
|
|
FUS
(HGNC:4010)
|
amyotrophic lateral sclerosis
(MONDO_0004976)
|
Definitive
|
|
|
PET100
(HGNC:40038)
|
Leigh syndrome
(MONDO_0009723)
|
Moderate
|
|
|
FTCD
(HGNC:3974)
|
formiminoglutamic aciduria
(MONDO_0009240)
|
Strong
|
|
|
FSHR
(HGNC:3969)
|
ovarian hyperstimulation syndrome
(MONDO_0011972)
|
Moderate
|
|
|
FSHB
(HGNC:3964)
|
hypogonadotropic hypogonadism 24 without anosmia
(MONDO_0009239)
|
Moderate
|
|
|
FSCN2
(HGNC:3960)
|
retinitis pigmentosa
(MONDO_0019200)
|
Limited
|
|
|
ALAD
(HGNC:395)
|
porphyria due to ALA dehydratase deficiency
(MONDO_0013000)
|
Strong
|
|
|
PRSS56
(HGNC:39433)
|
nanophthalmia
(MONDO_0005514)
|
Strong
|
|
|
MTOR
(HGNC:3942)
|
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
(MONDO_0014716)
|
Strong
|
|
|
AKT3
(HGNC:393)
|
microcephaly
(MONDO_0001149)
|
Limited
|
|
|
AKT2
(HGNC:392)
|
type 2 diabetes mellitus
(MONDO_0005148)
|
Limited
|
|