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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
DYNC1H1
(HGNC:2961)
|
autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
(MONDO_0008026)
|
Strong
|
|
|
MLPH
(HGNC:29643)
|
Griscelli syndrome type 3
(MONDO_0012220)
|
Strong
|
|
|
SH2B3
(HGNC:29605)
|
acute lymphoblastic leukemia
(MONDO_0004967)
|
Limited
|
|
|
DNASE1L3
(HGNC:2959)
|
hypocomplementemic urticarial vasculitis
(MONDO_0018227)
|
Strong
|
|
|
DNASE1
(HGNC:2956)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Limited
|
|
|
NEXN
(HGNC:29557)
|
hypertrophic cardiomyopathy
(MONDO_0005045)
|
Limited
|
|
|
LIPT1
(HGNC:29569)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
DNAI1
(HGNC:2954)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Definitive
|
|
|
DNAH8
(HGNC:2952)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
DNAH9
(HGNC:2953)
|
situs inversus
(MONDO_0010029)
|
Moderate
|
|
|
DNAH9
(HGNC:2953)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
GLDN
(HGNC:29514)
|
lethal congenital contracture syndrome 11
(MONDO_0014965)
|
Strong
|
|
|
TBL1XR1
(HGNC:29529)
|
Pierpont syndrome
(MONDO_0011213)
|
Strong
|
|
|
DNAH14
(HGNC:2945)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
NEXMIF
(HGNC:29433)
|
myoclonic-astatic epilepsy
(MONDO_0016025)
|
Limited
|
|
|
DNAH3
(HGNC:2949)
|
male infertility
(MONDO_0005372)
|
Moderate
|
|
|
CLTRN
(HGNC:29437)
|
Hartnup disease
(MONDO_0009324)
|
Limited
|
|
|
ANKRD24
(HGNC:29424)
|
sensorineural hearing loss disorder
(MONDO_0020678)
|
Limited
|
|
|
DNAH1
(HGNC:2940)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Limited
|
|
|
DMRT2
(HGNC:2935)
|
spondylocostal dysostosis
(MONDO_0000359)
|
Limited
|
|