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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
SMN1
(HGNC:11117)
spinal muscular atrophy
(MONDO_0001516)
 Definitive
SLC7A9
(HGNC:11067)
cystinuria
(MONDO_0009067)
 Definitive
SLC3A1
(HGNC:11025)
cystinuria
(MONDO_0009067)
 Definitive
KDM5C
(HGNC:11114)
X-linked intellectual disability
(MONDO_0100284)
 Definitive
SLC5A2
(HGNC:11037)
familial renal glucosuria
(MONDO_0009297)
 Definitive
SMC1A
(HGNC:11111)
Cornelia de Lange syndrome
(MONDO_0016033)
 Definitive
SLC7A7
(HGNC:11065)
lysinuric protein intolerance
(MONDO_0009109)
 Definitive
SMARCA2
(HGNC:11098)
intellectual disability-sparse hair-brachydactyly syndrome
(MONDO_0011053)
 Definitive
SMARCAL1
(HGNC:11102)
Schimke immuno-osseous dysplasia
(MONDO_0009458)
 Definitive
SLC26A2
(HGNC:10994)
diastrophic dysplasia
(MONDO_0009107)
 Definitive
SHH
(HGNC:10848)
holoprosencephaly
(MONDO_0016296)
 Definitive
SLC16A2
(HGNC:10923)
Allan-Herndon-Dudley syndrome
(MONDO_0010354)
 Definitive
SLC12A1
(HGNC:10910)
Bartter syndrome
(MONDO_0015231)
 Definitive
SLC6A8
(HGNC:11055)
creatine transporter deficiency
(MONDO_0010305)
 Definitive
SLC6A1
(HGNC:11042)
myoclonic-astatic epilepsy
(MONDO_0016025)
 Strong
SLC40A1
(HGNC:10909)
hereditary hemochromatosis
(MONDO_0006507)
 Definitive
SLC5A5
(HGNC:11040)
congenital hypothyroidism
(MONDO_0018612)
 Definitive
SLC40A1
(HGNC:10909)
hemochromatosis type 1
(MONDO_0021001)
 Moderate
SHOX
(HGNC:10853)
Langer mesomelic dysplasia
(MONDO_0009588)
 Definitive
SHOX
(HGNC:10853)
Turner syndrome
(MONDO_0019499)
 Strong
Showing 5141–5160 of 6681