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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
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
Showing 5821–5840 of 6681