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
MYOZ2
(HGNC:1330)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Moderate
HDAC8
(HGNC:13315)
Cornelia de Lange syndrome 5
(MONDO_0010471)
 Strong
ACTB
(HGNC:132)
Baraitser-Winter syndrome 1
(MONDO_0009470)
 Strong
DUOX2
(HGNC:13273)
familial thyroid dyshormonogenesis
(MONDO_0010132)
 Strong
LMBR1
(HGNC:13243)
triphalangeal thumb-polysyndactyly syndrome
(MONDO_0017454)
 Strong
TIMMDC1
(HGNC:1321)
Leigh syndrome
(MONDO_0009723)
 Moderate
C4A
(HGNC:1323)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
TIMMDC1
(HGNC:1321)
mitochondrial complex I deficiency
(MONDO_0100133)
 Moderate
BCL11A
(HGNC:13221)
Dias-Logan syndrome
(MONDO_0014914)
 Strong
ADAMTS9
(HGNC:13202)
ciliopathy
(MONDO_0005308)
 Moderate
BCL11B
(HGNC:13222)
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
(MONDO_0060763)
 Strong
ARL6
(HGNC:13210)
Bardet-Biedl syndrome 3
(MONDO_0010832)
 Strong
C3
(HGNC:1318)
C3 glomerulonephritis
(MONDO_0013892)
 Limited
ARL6
(HGNC:13210)
Bardet-Biedl syndrome
(MONDO_0015229)
 Strong
AICDA
(HGNC:13203)
hyper-IgM syndrome type 2
(MONDO_0011528)
 Definitive
ZNF81
(HGNC:13156)
X-linked intellectual disability
(MONDO_0100284)
 Disputed
C3
(HGNC:1318)
complement component 3 deficiency
(MONDO_0013417)
 Strong
SCAPER
(HGNC:13081)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
CBY1
(HGNC:1307)
Joubert syndrome
(MONDO_0018772)
 Moderate
ZNF219
(HGNC:13011)
microphthalmia
(MONDO_0021129)
 Limited
Showing 3581–3600 of 6699