Adenine AI
Stats
Documentation
Summaries
Chat
API
Pricing
Sign in
Announcing Adenine AI Chat:
an evidence-grounded germline and somatic genomics assistant for genes, variants, diseases, and tumors.
Try it now.
Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries
Gene–Disease Browser
Search gene/disease/HGNC/MONDO or name
Assertion
Any
Definitive
Strong
Moderate
Limited
Disputed
Refuted
Search
Need updated, customized, evidence‑backed summaries?
Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
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
Prev
1
…
100
101
102
103
104
…
335
Next
Back to top