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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
G6PD
(HGNC:4057)
G6PD deficiency
(MONDO_0005775)
 Definitive
GAA
(HGNC:4065)
glycogen storage disease II
(MONDO_0009290)
 Definitive
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)
 Strong
XRCC6
(HGNC:4055)
autism spectrum disorder
(MONDO_0005258)
 Limited
FZD4
(HGNC:4042)
persistent hyperplastic primary vitreous
(MONDO_0019631)
 Limited
ALDH3A2
(HGNC:403)
Sjogren-Larsson syndrome
(MONDO_0010031)
 Definitive
FXR1
(HGNC:4023)
congenital myopathy
(MONDO_0019952)
 Strong
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)
 Strong
FTCD
(HGNC:3974)
formiminoglutamic aciduria
(MONDO_0009240)
 Strong
FSHR
(HGNC:3969)
ovarian hyperstimulation syndrome
(MONDO_0011972)
 Strong
FSHB
(HGNC:3964)
hypogonadotropic hypogonadism 24 without anosmia
(MONDO_0009239)
 Strong
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)
 Definitive
Showing 1561–1580 of 6681