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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
MFN2
(HGNC:16877)
Charcot-Marie-Tooth disease type 2A2
(MONDO_0012231)
 Definitive
ASTN2
(HGNC:17021)
autism spectrum disorder
(MONDO_0005258)
 Limited
ASTN2
(HGNC:17021)
intellectual disability
(MONDO_0001071)
 Limited
PRICKLE1
(HGNC:17019)
Unverricht-Lundborg syndrome
(MONDO_0009698)
 Refuted
CD81
(HGNC:1701)
common variable immunodeficiency
(MONDO_0015517)
 Limited
PRICKLE1
(HGNC:17019)
progressive myoclonus epilepsy
(MONDO_0020074)
 Moderate
PRICKLE1
(HGNC:17019)
epilepsy
(MONDO_0005027)
 Limited
TRIOBP
(HGNC:17009)
autosomal recessive nonsyndromic hearing loss 28
(MONDO_0012355)
 Strong
RRAGA
(HGNC:16963)
cataract
(MONDO_0005129)
 Limited
ARPP21
(HGNC:16968)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Refuted
ERLIN1
(HGNC:16947)
hereditary spastic paraplegia 62
(MONDO_0014302)
 Moderate
ERLIN1
(HGNC:16947)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
DGAT2
(HGNC:16940)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Limited
NEBL
(HGNC:16932)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
BCKDK
(HGNC:16902)
branched-chain keto acid dehydrogenase kinase deficiency
(MONDO_0013970)
 Strong
CD59
(HGNC:1689)
primary CD59 deficiency
(MONDO_0012858)
 Strong
RAPGEF2
(HGNC:16854)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
FIG4
(HGNC:16873)
Yunis-Varon syndrome
(MONDO_0008995)
 Definitive
FIG4
(HGNC:16873)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Definitive
LITAF
(HGNC:16841)
Charcot-Marie-Tooth disease type 1C
(MONDO_0010995)
 Definitive
Showing 3161–3180 of 6681