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!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries

Gene–Disease Browser

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Gene Disease Score Actions
RHOH
(HGNC:686)
epidermodysplasia verruciformis
(MONDO_0009176)
Moderate
RHOJ
(HGNC:688)
endometriosis
(MONDO_0005133)
Limited
MAPK8IP1
(HGNC:6882)
Potocki-Shaffer syndrome
(MONDO_0011022)
Limited
ARHGEF6
(HGNC:685)
intellectual disability
(MONDO_0001071)
Disputed
MAP3K10
(HGNC:6849)
Langerhans cell histiocytosis
(MONDO_0018310)
Limited
MAN1B1
(HGNC:6823)
congenital disorder of glycosylation
(MONDO_0015286)
Definitive
ARHGDIA
(HGNC:678)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
Moderate
MALL
(HGNC:6818)
nephronophthisis
(MONDO_0019005)
Limited
LMOD3
(HGNC:6649)
nemaline myopathy
(MONDO_0018958)
Strong
LY9
(HGNC:6730)
systemic lupus erythematosus
(MONDO_0007915)
Limited
LY75
(HGNC:6729)
Crohn disease
(MONDO_0005011)
Limited
IRAG2
(HGNC:6690)
lung adenocarcinoma
(MONDO_0005061)
Limited
ARFRP1
(HGNC:662)
lung cancer
(MONDO_0008903)
Limited
LLGL2
(HGNC:6629)
acute myeloid leukemia
(MONDO_0018874)
Limited
LLGL2
(HGNC:6629)
severe congenital neutropenia
(MONDO_0018542)
Limited
LIPF
(HGNC:6622)
cholesteryl ester storage disease
(MONDO_0019149)
Moderate
LIPF
(HGNC:6622)
Wolman disease
(MONDO_0019148)
Strong
LGALS4
(HGNC:6565)
colorectal cancer
(MONDO_0005575)
Limited
LFNG
(HGNC:6560)
spondylocostal dysostosis
(MONDO_0000359)
Strong
LETM1
(HGNC:6556)
Wolf-Hirschhorn syndrome
(MONDO_0008684)
Moderate
Showing 5321–5340 of 6681