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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
SHANK3
(HGNC:14294)
autism spectrum disorder
(MONDO_0005258)
 Definitive
CALM1
(HGNC:1442)
long QT syndrome
(MONDO_0002442)
 Definitive
ACTC1
(HGNC:143)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
EDARADD
(HGNC:14341)
ectodermal dysplasia syndrome
(MONDO_0019287)
 Strong
SHANK3
(HGNC:14294)
Phelan-McDermid syndrome
(MONDO_0011652)
 Definitive
SLC25A20
(HGNC:1421)
carnitine-acylcarnitine translocase deficiency
(MONDO_0008918)
 Definitive
SOST
(HGNC:13771)
sclerosteosis
(MONDO_0017838)
 Strong
CACNA1H
(HGNC:1395)
primary aldosteronism
(MONDO_0001422)
 Strong
ABCG5
(HGNC:13886)
sitosterolemia
(MONDO_0008863)
 Definitive
CA2
(HGNC:1373)
autosomal recessive osteopetrosis 3
(MONDO_0009818)
 Definitive
ABCG8
(HGNC:13887)
sitosterolemia
(MONDO_0008863)
 Definitive
CACNA1D
(HGNC:1391)
primary aldosteronism
(MONDO_0001422)
 Strong
FBXL4
(HGNC:13601)
mitochondrial DNA depletion syndrome
(MONDO_0018158)
 Definitive
ABCG5
(HGNC:13886)
familial hypercholesterolemia
(MONDO_0005439)
 Limited
FBXO7
(HGNC:13586)
Parkinson disease
(MONDO_0005180)
 Strong
AAAS
(HGNC:13666)
triple-A syndrome
(MONDO_0009279)
 Definitive
VPS35
(HGNC:13487)
Parkinson disease
(MONDO_0005180)
 Strong
FBXO7
(HGNC:13586)
parkinsonian-pyramidal syndrome
(MONDO_0009830)
 Strong
SAMD9L
(HGNC:1349)
ataxia-pancytopenia syndrome
(MONDO_0008038)
 Strong
NSDHL
(HGNC:13398)
CHILD syndrome
(MONDO_0010621)
 Definitive
Showing 5021–5040 of 6681