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Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
Search gene/disease/HGNC/MONDO or name
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Gene
Disease
Score
Actions
STOX1
(HGNC:23508)
preeclampsia
(MONDO_0005081)
Limited
SLITRK4
(HGNC:23502)
age-related macular degeneration
(MONDO_0005150)
Limited
ECHDC3
(HGNC:23489)
Alzheimer disease
(MONDO_0004975)
Moderate
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)
Limited
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)
Strong
CPZ
(HGNC:2333)
neuroblastoma
(MONDO_0005072)
Limited
ACBD6
(HGNC:23339)
neurodevelopmental disorder
(MONDO_0700092)
Limited
TSPAN14
(HGNC:23303)
Alzheimer disease
(MONDO_0004975)
Limited
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
U2AF2
(HGNC:23156)
neurodevelopmental disorder
(MONDO_0700092)
Strong
TRMT5
(HGNC:23141)
congestive splenomegaly
(MONDO_0037251)
Limited
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