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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
U2AF2
(HGNC:23156)
neurodevelopmental disorder
(MONDO_0700092)
 Definitive
TRMT5
(HGNC:23141)
congestive splenomegaly
(MONDO_0037251)
 Limited
TRMT5
(HGNC:23141)
combined oxidative phosphorylation defect type 26
(MONDO_0014684)
 Moderate
RNF150
(HGNC:23138)
chronic obstructive pulmonary disease
(MONDO_0005002)
 Limited
SLC29A4
(HGNC:23097)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
ARHGAP33
(HGNC:23085)
intellectual disability
(MONDO_0001071)
 Limited
TRAPPC2
(HGNC:23068)
spondyloepiphyseal dysplasia tarda, X-linked
(MONDO_0010737)
 Definitive
TRAPPC6B
(HGNC:23066)
intellectual disability
(MONDO_0001071)
 Strong
ALG3
(HGNC:23056)
congenital disorder of glycosylation
(MONDO_0015286)
 Definitive
BRK1
(HGNC:23057)
von Hippel-Lindau disease
(MONDO_0008667)
 Disputed
ALG3
(HGNC:23056)
ALG3-congenital disorder of glycosylation
(MONDO_0010998)
 Definitive
TM7SF3
(HGNC:23049)
Kallmann syndrome
(MONDO_0018800)
 Limited
TM7SF3
(HGNC:23049)
intellectual disability
(MONDO_0001071)
 Limited
ARMC2
(HGNC:23045)
male infertility
(MONDO_0005372)
 Moderate
CPB1
(HGNC:2299)
pancreatic ductal adenocarcinoma
(MONDO_0005184)
 Limited
TMC4
(HGNC:22998)
metabolic dysfunction-associated steatotic liver disease
(MONDO_0013209)
 Disputed
PEX26
(HGNC:22965)
peroxisome biogenesis disorder
(MONDO_0019234)
 Strong
DEPTOR
(HGNC:22953)
lung cancer
(MONDO_0008903)
 Limited
GPR155
(HGNC:22951)
lung cancer
(MONDO_0008903)
 Limited
SLC25A2
(HGNC:22921)
gastric cancer
(MONDO_0001056)
 Disputed
Showing 5961–5980 of 6681