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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
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MSL2
(HGNC:25544)
neurodevelopmental disorder
(MONDO_0700092)
Moderate
MSL2
(HGNC:25544)
autism spectrum disorder
(MONDO_0005258)
Limited
CUL4B
(HGNC:2555)
X-linked intellectual disability, Cabezas type
(MONDO_0010306)
Strong
RFWD3
(HGNC:25539)
Fanconi anemia
(MONDO_0019391)
Moderate
SLFN12
(HGNC:25500)
Sezary syndrome
(MONDO_0017844)
Limited
TSR1
(HGNC:25542)
idiopathic spontaneous coronary artery dissection
(MONDO_0007385)
Limited
ENOX1
(HGNC:25474)
myasthenia gravis
(MONDO_0009688)
Limited
FAR2
(HGNC:25531)
Kallmann syndrome
(MONDO_0018800)
Limited
MTPAP
(HGNC:25532)
spastic ataxia
(MONDO_0017845)
Limited
PUS3
(HGNC:25461)
neurodevelopmental disorder
(MONDO_0700092)
Moderate
FAR2
(HGNC:25531)
intellectual disability
(MONDO_0001071)
Limited
SAMD7
(HGNC:25394)
retinitis pigmentosa
(MONDO_0019200)
Limited
TMTC2
(HGNC:25440)
sensorineural hearing loss disorder
(MONDO_0020678)
Moderate
RAB40AL
(HGNC:25410)
deafness-intellectual disability, Martin-Probst type syndrome
(MONDO_0010353)
Refuted
TMTC2
(HGNC:25440)
OPTN-related open angle glaucoma
(MONDO_0100553)
Limited
PIANP
(HGNC:25338)
intellectual disability
(MONDO_0001071)
Limited
FBXL19
(HGNC:25300)
psoriasis
(MONDO_0005083)
Limited
NRK
(HGNC:25391)
Sotos syndrome
(MONDO_0019349)
Disputed
SHARPIN
(HGNC:25321)
Alzheimer disease
(MONDO_0004975)
Moderate
ANO6
(HGNC:25240)
ankylosing spondylitis
(MONDO_0005306)
Limited
Showing 5841–5860 of 6699
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