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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
MRPS23
(HGNC:14509)
mitochondrial disease
(MONDO_0044970)
 Strong
CALM3
(HGNC:1449)
long QT syndrome
(MONDO_0002442)
 Strong
KCNK16
(HGNC:14464)
type 2 diabetes mellitus
(MONDO_0005148)
 Strong
ELOVL1
(HGNC:14418)
progressive supranuclear palsy
(MONDO_0019037)
 Strong
ELOVL1
(HGNC:14418)
cerebral palsy
(MONDO_0006497)
 Strong
OPN4
(HGNC:14449)
circadian rhythm sleep disorder, delayed sleep phase type
(MONDO_0024377)
 Limited
WDR13
(HGNC:14352)
X-linked intellectual disability
(MONDO_0100284)
 Moderate
ACP4
(HGNC:14376)
amelogenesis imperfecta
(MONDO_0019507)
 Strong
BAALC
(HGNC:14333)
acute myeloid leukemia
(MONDO_0018874)
 Strong
GLMN
(HGNC:14373)
glomuvenous malformation
(MONDO_0007672)
 Strong
NLGN2
(HGNC:14290)
autism
(MONDO_0005260)
 Limited
NLGN2
(HGNC:14290)
schizophrenia
(MONDO_0005090)
 Strong
MS4A6E
(HGNC:14285)
Alzheimer disease
(MONDO_0004975)
 Strong
MRPL4
(HGNC:14276)
allergic rhinitis
(MONDO_0011786)
 Moderate
GAR1
(HGNC:14264)
dyskeratosis congenita
(MONDO_0015780)
 Limited
BRPF1
(HGNC:14255)
intellectual developmental disorder with dysmorphic facies and ptosis
(MONDO_0015022)
 Strong
RAB23
(HGNC:14263)
Carpenter syndrome
(MONDO_0019012)
 Strong
MED15
(HGNC:14248)
autism spectrum disorder
(MONDO_0005258)
 Limited
DERL3
(HGNC:14236)
coronary artery disorder
(MONDO_0005010)
 Moderate
JPH1
(HGNC:14201)
congenital myopathy
(MONDO_0019952)
 Strong
Showing 6421–6440 of 6681