Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Moderate
|
|
|
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
|
|
|
ODAD3
(HGNC:28303)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Moderate
|
|
|
DYNC2I2
(HGNC:28296)
|
Jeune syndrome
(MONDO_0018770)
|
Strong
|
|