Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CTLA4
(HGNC:2505)
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
(MONDO_0014493)
 Strong
ACD
(HGNC:25070)
Hoyeraal-Hreidarsson syndrome
(MONDO_0018045)
 Limited
CTLA4
(HGNC:2505)
systemic lupus erythematosus
(MONDO_0007915)
 Moderate
TMEM216
(HGNC:25018)
Meckel syndrome
(MONDO_0018921)
 Strong
TMEM216
(HGNC:25018)
Joubert syndrome 2
(MONDO_0011963)
 Strong
CCN2
(HGNC:2500)
spondyloepimetaphyseal dysplasia
(MONDO_0100510)
 Moderate
CCN2
(HGNC:2500)
kyphomelic dysplasia
(MONDO_0008881)
 Moderate
COA3
(HGNC:24990)
cytochrome-c oxidase deficiency disease
(MONDO_0009068)
 Limited
NPRL2
(HGNC:24969)
focal epilepsy
(MONDO_0005384)
 Moderate
NPRL2
(HGNC:24969)
familial focal epilepsy with variable foci
(MONDO_0020310)
 Limited
CTBP1
(HGNC:2494)
hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
(MONDO_0060666)
 Strong
ZC4H2
(HGNC:24931)
Wieacker-Wolff syndrome, female-restricted
(MONDO_0026762)
 Moderate
NKX2-5
(HGNC:2488)
tetralogy of fallot
(MONDO_0008542)
 Limited
NKX2-5
(HGNC:2488)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
MOGS
(HGNC:24862)
MOGS-congenital disorder of glycosylation
(MONDO_0011629)
 Strong
MFF
(HGNC:24858)
encephalopathy due to defective mitochondrial and peroxisomal fission 2
(MONDO_0014905)
 Limited
MFF
(HGNC:24858)
Leigh syndrome
(MONDO_0009723)
 Limited
GAS2L2
(HGNC:24846)
primary ciliary dyskinesia
(MONDO_0016575)
 Limited
CSTA
(HGNC:2481)
exfoliative ichthyosis
(MONDO_0017339)
 Limited
CSTA
(HGNC:2481)
acral peeling skin syndrome
(MONDO_0012345)
 Moderate
Showing 2401–2420 of 6699