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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
SMG8
(HGNC:25551)
|
Alzahrani-Kuwahara syndrome
(MONDO_0859136)
|
Moderate
|
|
|
CUL4B
(HGNC:2555)
|
X-linked intellectual disability
(MONDO_0100284)
|
Definitive
|
|
|
MSL2
(HGNC:25544)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Moderate
|
|
|
MSL2
(HGNC:25544)
|
autism spectrum disorder
(MONDO_0005258)
|
Moderate
|
|
|
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)
|
Disputed
|
|
|
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)
|
Moderate
|
|
|
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)
|
Limited
|
|
|
RAB40AL
(HGNC:25410)
|
deafness-intellectual disability, Martin-Probst type syndrome
(MONDO_0010353)
|
Disputed
|
|
|
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
|
|