Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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
ZNF311
(HGNC:13847)
cancer
(MONDO_0004992)
 Limited
SLCO1C1
(HGNC:13819)
Alzheimer disease
(MONDO_0004975)
 Strong
PRX
(HGNC:13797)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Strong
GFM1
(HGNC:13780)
mitochondrial disease
(MONDO_0044970)
 Strong
IGDCC4
(HGNC:13770)
age-related macular degeneration
(MONDO_0005150)
 Limited
RELT
(HGNC:13764)
amelogenesis imperfecta
(MONDO_0019507)
 Strong
MAEA
(HGNC:13731)
type 2 diabetes mellitus
(MONDO_0005148)
 Strong
POF1B
(HGNC:13711)
premature menopause
(MONDO_0001119)
 Limited
SCG3
(HGNC:13707)
obesity disorder
(MONDO_0011122)
 Moderate
TMEM187
(HGNC:13705)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
PABPC5
(HGNC:13629)
Tourette syndrome
(MONDO_0007661)
 Limited
PABPC5
(HGNC:13629)
attention deficit hyperactivity disorder, inattentive type
(MONDO_0005302)
 Limited
FBXL7
(HGNC:13604)
Hennekam syndrome
(MONDO_0016256)
 Limited
BRD4
(HGNC:13575)
nut midline carcinoma
(MONDO_0005563)
 Strong
MAGEC2
(HGNC:13574)
melanoma
(MONDO_0005105)
 Strong
ERLIN2
(HGNC:1356)
hereditary spastic paraplegia
(MONDO_0019064)
 Strong
IFT122
(HGNC:13556)
cranioectodermal dysplasia
(MONDO_0009032)
 Strong
ATP10D
(HGNC:13549)
myocardial infarction
(MONDO_0005068)
 Strong
ATP10B
(HGNC:13543)
Parkinson disease
(MONDO_0005180)
 Disputed
ATP9A
(HGNC:13540)
intellectual disability
(MONDO_0001071)
 Strong
Showing 6461–6480 of 6681