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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
UGP2
(HGNC:12527)
glycogen storage disease II
(MONDO_0009290)
 Limited
ACP5
(HGNC:124)
Spondyloenchondrodysplasia with immune dysregulation
(MONDO_0011939)
 Strong
UFD1
(HGNC:12520)
schizophrenia
(MONDO_0005090)
 Limited
UBE2N
(HGNC:12492)
breast cancer
(MONDO_0007254)
 Limited
UCN
(HGNC:12516)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
UBE4A
(HGNC:12499)
intellectual disability
(MONDO_0001071)
 Strong
UBE2H
(HGNC:12484)
Parkinson disease
(MONDO_0005180)
 Limited
UBA7
(HGNC:12471)
ulcerative colitis
(MONDO_0005101)
 Limited
C1S
(HGNC:1247)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
UBA7
(HGNC:12471)
intellectual disability
(MONDO_0001071)
 Moderate
UBA7
(HGNC:12471)
Crohn disease
(MONDO_0005011)
 Limited
C1R
(HGNC:1246)
Ehlers-Danlos syndrome, periodontitis type
(MONDO_0007527)
 Strong
UBAP1
(HGNC:12461)
hereditary spastic paraplegia
(MONDO_0019064)
 Strong
TTC3
(HGNC:12393)
Alzheimer disease
(MONDO_0004975)
 Strong
TUBG2
(HGNC:12419)
polymicrogyria
(MONDO_0000087)
 Limited
TSHB
(HGNC:12372)
congenital hypothyroidism
(MONDO_0018612)
 Strong
LDLRAD4
(HGNC:1224)
periodontitis
(MONDO_0005076)
 Limited
TSHB
(HGNC:12372)
central congenital hypothyroidism
(MONDO_0016410)
 Strong
CEP41
(HGNC:12370)
Joubert syndrome
(MONDO_0018772)
 Strong
TOMM70
(HGNC:11985)
COVID-19
(MONDO_0100096)
 Limited
Showing 6541–6560 of 6681