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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
TUBAL3
(HGNC:23534)
intellectual disability
(MONDO_0001071)
 Disputed
PYROXD2
(HGNC:23517)
mitochondrial disease
(MONDO_0044970)
 Limited
STOX1
(HGNC:23508)
preeclampsia
(MONDO_0005081)
 Limited
SLITRK4
(HGNC:23502)
age-related macular degeneration
(MONDO_0005150)
 Limited
ECHDC3
(HGNC:23489)
Alzheimer disease
(MONDO_0004975)
 Limited
CALHM2
(HGNC:23493)
Alzheimer disease
(MONDO_0004975)
 Limited
CRAT
(HGNC:2342)
Leigh syndrome
(MONDO_0009723)
 Limited
LIPN
(HGNC:23452)
autosomal recessive congenital ichthyosis
(MONDO_0017265)
 Moderate
KIFBP
(HGNC:23419)
Goldberg-Shprintzen syndrome
(MONDO_0012280)
 Strong
DOLK
(HGNC:23406)
congenital disorder of glycosylation
(MONDO_0015286)
 Strong
PIBF1
(HGNC:23352)
Joubert syndrome
(MONDO_0018772)
 Moderate
CPZ
(HGNC:2333)
neuroblastoma
(MONDO_0005072)
 Limited
ACBD6
(HGNC:23339)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
TSPAN14
(HGNC:23303)
Alzheimer disease
(MONDO_0004975)
 Moderate
CPOX
(HGNC:2321)
hereditary coproporphyria
(MONDO_0007369)
 Definitive
TSPAN15
(HGNC:23298)
venous thromboembolism
(MONDO_0005399)
 Moderate
GKN1
(HGNC:23217)
lung cancer
(MONDO_0008903)
 Limited
CPNE6
(HGNC:2319)
intellectual disability
(MONDO_0001071)
 Limited
FERMT3
(HGNC:23151)
leukocyte adhesion deficiency 3
(MONDO_0013016)
 Definitive
CLINT1
(HGNC:23186)
schizophrenia
(MONDO_0005090)
 Disputed
Showing 5941–5960 of 6681