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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
MN1
(HGNC:7180)
|
acute myeloid leukemia
(MONDO_0018874)
|
Moderate
|
|
|
MKRN3
(HGNC:7114)
|
central precocious puberty
(MONDO_0019165)
|
Definitive
|
|
|
MKRN3
(HGNC:7114)
|
idiopathic central precocious puberty
(MONDO_0015713)
|
Definitive
|
|
|
MKKS
(HGNC:7108)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Strong
|
|
|
MKKS
(HGNC:7108)
|
McKusick-Kaufman syndrome
(MONDO_0009367)
|
Strong
|
|
|
CD46
(HGNC:6953)
|
atypical hemolytic-uremic syndrome
(MONDO_0016244)
|
Strong
|
|
|
MERTK
(HGNC:7027)
|
retinitis pigmentosa
(MONDO_0019200)
|
Definitive
|
|
|
CD46
(HGNC:6953)
|
hemolytic-uremic syndrome
(MONDO_0001549)
|
Strong
|
|
|
MCCC2
(HGNC:6937)
|
3-methylcrotonyl-CoA carboxylase deficiency
(MONDO_0018950)
|
Definitive
|
|
|
MC2R
(HGNC:6930)
|
familial glucocorticoid deficiency
(MONDO_0008733)
|
Definitive
|
|
|
LZTR1
(HGNC:6742)
|
Noonan syndrome
(MONDO_0018997)
|
Strong
|
|
|
LZTR1
(HGNC:6742)
|
schwannomatosis
(MONDO_0008075)
|
Strong
|
|
|
LRP4
(HGNC:6696)
|
Cenani-Lenz syndactyly syndrome
(MONDO_0008931)
|
Strong
|
|
|
LRP2
(HGNC:6694)
|
Donnai-Barrow syndrome
(MONDO_0009104)
|
Strong
|
|
|
RHOA
(HGNC:667)
|
angioimmunoblastic T-cell lymphoma
(MONDO_0004977)
|
Strong
|
|
|
ARG1
(HGNC:663)
|
hyperargininemia
(MONDO_0008814)
|
Definitive
|
|
|
LIPA
(HGNC:6617)
|
Wolman disease
(MONDO_0019148)
|
Definitive
|
|
|
LIPA
(HGNC:6617)
|
cholesteryl ester storage disease
(MONDO_0019149)
|
Definitive
|
|
|
LGI1
(HGNC:6572)
|
autosomal dominant epilepsy with auditory features
(MONDO_0010898)
|
Definitive
|
|
|
LIPA
(HGNC:6617)
|
lysosomal acid lipase deficiency
(MONDO_0800449)
|
Definitive
|
|