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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
WNT6
(HGNC:12785)
bladder exstrophy
(MONDO_0010805)
 Limited
XPNPEP2
(HGNC:12823)
premature menopause
(MONDO_0001119)
 Limited
REXO4
(HGNC:12820)
familial isolated pituitary adenoma
(MONDO_0017824)
 Limited
XPOT
(HGNC:12826)
12q14 microdeletion syndrome
(MONDO_0019784)
 Limited
WNT8B
(HGNC:12789)
bladder exstrophy
(MONDO_0010805)
 Limited
LAT2
(HGNC:12749)
Williams syndrome
(MONDO_0008678)
 Limited
TSPEAR
(HGNC:1268)
ectodermal dysplasia syndrome
(MONDO_0019287)
 Strong
WDR4
(HGNC:12756)
isolated growth hormone deficiency type IA
(MONDO_0009876)
 Limited
WDR3
(HGNC:12755)
differentiated thyroid carcinoma
(MONDO_0015447)
 Strong
ACR
(HGNC:126)
Phelan-McDermid syndrome
(MONDO_0011652)
 Limited
WASL
(HGNC:12735)
gastric cancer
(MONDO_0001056)
 Limited
VPREB1
(HGNC:12709)
B-cell acute lymphoblastic leukemia
(MONDO_0004947)
 Strong
VDAC3
(HGNC:12674)
autism spectrum disorder
(MONDO_0005258)
 Limited
USP6
(HGNC:12629)
aneurysmal bone cyst
(MONDO_0018815)
 Strong
VAMP5
(HGNC:12646)
Hirschsprung disease
(MONDO_0018309)
 Strong
USP28
(HGNC:12625)
breast cancer
(MONDO_0007254)
 Strong
USP28
(HGNC:12625)
glioma
(MONDO_0021042)
 Strong
USP2
(HGNC:12618)
intellectual disability
(MONDO_0001071)
 Limited
USP14
(HGNC:12612)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
UNC119
(HGNC:12565)
cone-rod dystrophy
(MONDO_0015993)
 Limited
Showing 6521–6540 of 6681