Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 4521–4540 of 6699