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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Moderate
|
|
|
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)
|
Strong
|
|
|
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)
|
Definitive
|
|
|
SLC9A6
(HGNC:11079)
|
Christianson syndrome
(MONDO_0010278)
|
Definitive
|
|
|
SOX5
(HGNC:11201)
|
Lamb-Shaffer syndrome
(MONDO_0014778)
|
Strong
|
|
|
SMN2
(HGNC:11118)
|
spinal muscular atrophy
(MONDO_0001516)
|
Moderate
|
|
|
SLC5A5
(HGNC:11040)
|
hypothyroidism due to iodide transport defect
(MONDO_0043103)
|
Strong
|
|
|
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
|
|
|
SMN1
(HGNC:11117)
|
spinal muscular atrophy
(MONDO_0001516)
|
Definitive
|
|
|
SLC7A9
(HGNC:11067)
|
cystinuria
(MONDO_0009067)
|
Definitive
|
|