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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Strong
|
|
|
SLC5A5
(HGNC:11040)
|
congenital hypothyroidism
(MONDO_0018612)
|
Strong
|
|
|
SLC40A1
(HGNC:10909)
|
hemochromatosis type 1
(MONDO_0021001)
|
Limited
|
|
|
SHOX
(HGNC:10853)
|
Langer mesomelic dysplasia
(MONDO_0009588)
|
Definitive
|
|
|
SHOX
(HGNC:10853)
|
Turner syndrome
(MONDO_0019499)
|
Strong
|
|
|
SLC34A1
(HGNC:11019)
|
hypercalcemia, infantile
(MONDO_0000212)
|
Strong
|
|
|
SH2D1A
(HGNC:10820)
|
X-linked lymphoproliferative syndrome
(MONDO_0010627)
|
Definitive
|
|