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
SLC1A1
(HGNC:10939)
hot water reflex epilepsy
(MONDO_0013229)
 Limited
SLC18A2
(HGNC:10935)
brain dopamine-serotonin vesicular transport disease
(MONDO_0018130)
 Strong
SLC18A3
(HGNC:10936)
fetal akinesia deformation sequence 1
(MONDO_0100101)
 Limited
SLC18A2
(HGNC:10935)
schizophrenia
(MONDO_0005090)
 Limited
SLC12A6
(HGNC:10914)
agenesis of the corpus callosum with peripheral neuropathy
(MONDO_0000902)
 Definitive
SLC17A5
(HGNC:10933)
free sialic acid storage disease, infantile form
(MONDO_0010027)
 Definitive
STIL
(HGNC:10879)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Moderate
SLC17A5
(HGNC:10933)
free sialic acid storage disease
(MONDO_0019366)
 Strong
SLC16A1
(HGNC:10922)
ketoacidosis due to monocarboxylate transporter-1 deficiency
(MONDO_0014490)
 Strong
SLC16A1
(HGNC:10922)
exercise-induced hyperinsulinism
(MONDO_0012396)
 Moderate
SLC12A3
(HGNC:10912)
Gitelman syndrome
(MONDO_0009904)
 Definitive
STIL
(HGNC:10879)
holoprosencephaly
(MONDO_0016296)
 Moderate
SLC11A1
(HGNC:10907)
cystic fibrosis
(MONDO_0009061)
 Limited
SLC12A2
(HGNC:10911)
schizophrenia
(MONDO_0005090)
 Limited
DST
(HGNC:1090)
hereditary sensory and autonomic neuropathy type 6
(MONDO_0013839)
 Moderate
SLC12A2
(HGNC:10911)
syndromic intellectual disability
(MONDO_0000508)
 Moderate
SLC11A2
(HGNC:10908)
microcytic anemia with liver iron overload
(MONDO_0008787)
 Strong
SLC10A1
(HGNC:10905)
hypercholanemia, familial, 2
(MONDO_0031003)
 Strong
VPS4B
(HGNC:10895)
dentin dysplasia type I
(MONDO_0007436)
 Limited
SIX5
(HGNC:10891)
branchio-oto-renal syndrome
(MONDO_0007029)
 Disputed
Showing 4141–4160 of 6699