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
CYBRD1
(HGNC:20797)
hereditary hemochromatosis
(MONDO_0006507)
 Disputed
RHBDF2
(HGNC:20788)
palmoplantar keratoderma-esophageal carcinoma syndrome
(MONDO_0007856)
 Strong
CLN6
(HGNC:2077)
ceroid lipofuscinosis, neuronal, 6A
(MONDO_0011144)
 Limited
FANCL
(HGNC:20748)
Fanconi anemia
(MONDO_0019391)
 Strong
TXNDC15
(HGNC:20652)
Meckel syndrome
(MONDO_0018921)
 Moderate
CHD7
(HGNC:20626)
Kallmann syndrome
(MONDO_0018800)
 Strong
TPP1
(HGNC:2073)
neuronal ceroid lipofuscinosis
(MONDO_0016295)
 Definitive
TUBB
(HGNC:20778)
multiple benign circumferential skin creases on limbs
(MONDO_0007990)
 Moderate
TUBB3
(HGNC:20772)
complex cortical dysplasia with other brain malformations 1
(MONDO_0013541)
 Strong
TUBB4A
(HGNC:20774)
torsion dystonia 4
(MONDO_0007493)
 Moderate
TUBB3
(HGNC:20772)
congenital fibrosis of extraocular muscles
(MONDO_0007614)
 Strong
TUBB4B
(HGNC:20771)
Leber congenital amaurosis with early-onset deafness
(MONDO_0060650)
 Moderate
CHD7
(HGNC:20626)
hypogonadotropic hypogonadism
(MONDO_0018555)
 Moderate
CLN5
(HGNC:2076)
neuronal ceroid lipofuscinosis 5
(MONDO_0009745)
 Strong
ZFYVE26
(HGNC:20761)
hereditary spastic paraplegia 15
(MONDO_0010044)
 Strong
PDLIM3
(HGNC:20767)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
PDLIM3
(HGNC:20767)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
SLC25A26
(HGNC:20661)
mitochondrial disease
(MONDO_0044970)
 Moderate
SLC9A9
(HGNC:20653)
autism spectrum disorder
(MONDO_0005258)
 Limited
CLN3
(HGNC:2074)
inherited retinal dystrophy
(MONDO_0019118)
 Limited
Showing 2741–2760 of 6699