Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
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
Showing 2021–2040 of 6699