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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
CDKL5
(HGNC:11411)
developmental and epileptic encephalopathy, 2
(MONDO_0010396)
 Definitive
STIM1
(HGNC:11386)
Stormorken syndrome
(MONDO_0008497)
 Strong
SPAST
(HGNC:11233)
hereditary spastic paraplegia 4
(MONDO_0008438)
 Definitive
ATL1
(HGNC:11231)
hereditary spastic paraplegia
(MONDO_0019064)
 Definitive
SPOP
(HGNC:11254)
prostate cancer
(MONDO_0008315)
 Strong
BTD
(HGNC:1122)
biotinidase deficiency
(MONDO_0009665)
 Definitive
ATL1
(HGNC:11231)
hereditary spastic paraplegia 3A
(MONDO_0008437)
 Definitive
SPG11
(HGNC:11226)
hereditary spastic paraplegia
(MONDO_0019064)
 Definitive
SLC40A1
(HGNC:10909)
hemochromatosis type 4
(MONDO_0011631)
 Definitive
SNRPN
(HGNC:11164)
Prader-Willi syndrome
(MONDO_0008300)
 Definitive
SORL1
(HGNC:11185)
Alzheimer disease
(MONDO_0004975)
 Strong
SPG11
(HGNC:11226)
hereditary spastic paraplegia 11
(MONDO_0011445)
 Definitive
SLC34A2
(HGNC:11020)
pulmonary alveolar microlithiasis
(MONDO_0009928)
 Strong
SLC9A6
(HGNC:11079)
Christianson syndrome
(MONDO_0010278)
 Definitive
SOX5
(HGNC:11201)
Lamb-Shaffer syndrome
(MONDO_0014778)
 Definitive
SMN2
(HGNC:11118)
spinal muscular atrophy
(MONDO_0001516)
 Strong
SLC5A5
(HGNC:11040)
hypothyroidism due to iodide transport defect
(MONDO_0043103)
 Definitive
SON
(HGNC:11183)
ZTTK syndrome
(MONDO_0014936)
 Definitive
SLC12A1
(HGNC:10910)
Bartter disease type 1
(MONDO_0100344)
 Definitive
SMN1
(HGNC:11117)
spinal muscular atrophy, type 1
(MONDO_0009669)
 Definitive
Showing 5121–5140 of 6681