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
ACTC1
(HGNC:143)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Strong
EDARADD
(HGNC:14341)
ectodermal dysplasia syndrome
(MONDO_0019287)
 Moderate
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)
 Definitive
CACNA1H
(HGNC:1395)
primary aldosteronism
(MONDO_0001422)
 Moderate
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)
 Strong
ABCG5
(HGNC:13886)
familial hypercholesterolemia
(MONDO_0005439)
 Disputed
FBXO7
(HGNC:13586)
Parkinson disease
(MONDO_0005180)
 Moderate
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
ACTB
(HGNC:132)
Baraitser-Winter cerebrofrontofacial syndrome
(MONDO_0017579)
 Definitive
SAMD9
(HGNC:1348)
MIRAGE syndrome
(MONDO_0014888)
 Definitive
Showing 5041–5060 of 6699