Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Gene Disease Score Actions
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