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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
B9D2
(HGNC:28636)
Meckel syndrome
(MONDO_0018921)
 Moderate
DHCR7
(HGNC:2860)
Smith-Lemli-Opitz syndrome
(MONDO_0010035)
 Definitive
NDUFAF6
(HGNC:28625)
Leigh syndrome
(MONDO_0009723)
 Strong
DHFR
(HGNC:2861)
constitutional megaloblastic anemia with severe neurologic disease
(MONDO_0013456)
 Moderate
RICTOR
(HGNC:28611)
Tourette syndrome
(MONDO_0007661)
 Limited
B3GALNT2
(HGNC:28596)
muscle-eye-brain disease
(MONDO_0018939)
 Strong
SNX31
(HGNC:28605)
schizophrenia
(MONDO_0005090)
 Limited
B3GALNT2
(HGNC:28596)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Strong
DGUOK
(HGNC:2858)
mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
(MONDO_0009636)
 Strong
KLHDC8B
(HGNC:28557)
classic Hodgkin lymphoma
(MONDO_0009348)
 Limited
EOGT
(HGNC:28526)
Adams-Oliver syndrome
(MONDO_0007034)
 Strong
MFSD8
(HGNC:28486)
neuronal ceroid lipofuscinosis 7
(MONDO_0012588)
 Strong
TMEM67
(HGNC:28396)
Meckel syndrome
(MONDO_0018921)
 Definitive
TMEM67
(HGNC:28396)
Joubert syndrome 6
(MONDO_0012539)
 Strong
TMEM67
(HGNC:28396)
Joubert syndrome
(MONDO_0018772)
 Definitive
TMEM67
(HGNC:28396)
ciliopathy
(MONDO_0005308)
 Strong
SGMS2
(HGNC:28395)
calvarial doughnut lesions-bone fragility syndrome
(MONDO_0007470)
 Strong
D2HGDH
(HGNC:28358)
D-2-hydroxyglutaric aciduria
(MONDO_0010924)
 Strong
C9orf72
(HGNC:28337)
progressive myoclonus epilepsy
(MONDO_0020074)
 Limited
TET3
(HGNC:28313)
Beck-Fahrner syndrome
(MONDO_0032922)
 Strong
Showing 2121–2140 of 6681