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Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
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Gene
Disease
Score
Actions
FMR1
(HGNC:3775)
premature ovarian failure 1
(MONDO_0010706)
Moderate
AKAP9
(HGNC:379)
long QT syndrome
(MONDO_0002442)
Limited
AFF2
(HGNC:3776)
FRAXE intellectual disability
(MONDO_0010659)
Limited
FOLR1
(HGNC:3791)
neurodegenerative syndrome due to cerebral folate transport deficiency
(MONDO_0013110)
Strong
FMR1
(HGNC:3775)
fragile X syndrome
(MONDO_0010383)
Definitive
FLRT3
(HGNC:3762)
Kallmann syndrome
(MONDO_0018800)
Limited
FMR1
(HGNC:3775)
fragile X-associated tremor/ataxia syndrome
(MONDO_0010382)
Strong
FLNC
(HGNC:3756)
myofibrillar myopathy 5
(MONDO_0012289)
Strong
FLNB
(HGNC:3755)
spondylocarpotarsal synostosis syndrome
(MONDO_0010094)
Strong
FLNB
(HGNC:3755)
Boomerang dysplasia
(MONDO_0007208)
Strong
FLNC
(HGNC:3756)
dilated cardiomyopathy
(MONDO_0005021)
Strong
FLNB
(HGNC:3755)
Larsen syndrome
(MONDO_0007875)
Definitive
FLNB
(HGNC:3755)
atelosteogenesis type III
(MONDO_0007168)
Strong
FLNA
(HGNC:3754)
frontometaphyseal dysplasia
(MONDO_0015942)
Strong
FLNB
(HGNC:3755)
atelosteogenesis type I
(MONDO_0007167)
Strong
FLNA
(HGNC:3754)
periventricular nodular heterotopia
(MONDO_0020341)
Definitive
FLNA
(HGNC:3754)
congenital short bowel syndrome
(MONDO_0014097)
Limited
FLNA
(HGNC:3754)
Melnick-Needles syndrome
(MONDO_0010650)
Strong
FLNA
(HGNC:3754)
otopalatodigital syndrome type 2
(MONDO_0010571)
Moderate
TMEM231
(HGNC:37234)
Meckel syndrome
(MONDO_0018921)
Moderate
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