Stats
Gene–disease association summaries
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
|
|