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Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
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Gene
Disease
Score
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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)
Limited
ACR
(HGNC:126)
Phelan-McDermid syndrome
(MONDO_0011652)
Disputed
WASL
(HGNC:12735)
gastric cancer
(MONDO_0001056)
Limited
VPREB1
(HGNC:12709)
B-cell acute lymphoblastic leukemia
(MONDO_0004947)
Limited
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)
Limited
USP28
(HGNC:12625)
breast cancer
(MONDO_0007254)
Limited
USP28
(HGNC:12625)
glioma
(MONDO_0021042)
Limited
USP2
(HGNC:12618)
intellectual disability
(MONDO_0001071)
Limited
USP14
(HGNC:12612)
neurodevelopmental disorder
(MONDO_0700092)
Moderate
UNC119
(HGNC:12565)
cone-rod dystrophy
(MONDO_0015993)
Limited
UGP2
(HGNC:12527)
glycogen storage disease II
(MONDO_0009290)
Disputed
ACP5
(HGNC:124)
Spondyloenchondrodysplasia with immune dysregulation
(MONDO_0011939)
Definitive
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