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Gene–disease association summaries
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
|
|