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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
KCNG2
(HGNC:6249)
sick sinus syndrome
(MONDO_0001823)
 Limited
APOB
(HGNC:603)
familial hypobetalipoproteinemia 1
(MONDO_0014252)
 Strong
IDUA
(HGNC:5391)
mucopolysaccharidosis type 2
(MONDO_0010674)
 Refuted
HS3ST1
(HGNC:5194)
Alzheimer disease
(MONDO_0004975)
 Limited
ALAS2
(HGNC:397)
mucopolysaccharidosis type 6
(MONDO_0009661)
 Refuted
ZNF627
(HGNC:30570)
myocardial infarction
(MONDO_0005068)
 Disputed
POU2AF2
(HGNC:30527)
colorectal cancer
(MONDO_0005575)
 Limited
UBR3
(HGNC:30467)
autism spectrum disorder
(MONDO_0005258)
 Limited
DMPK
(HGNC:2933)
myotonic dystrophy type 2
(MONDO_0011266)
 Disputed
KCTD16
(HGNC:29244)
autism spectrum disorder
(MONDO_0005258)
 Limited
SFI1
(HGNC:29064)
colon carcinoma
(MONDO_0002032)
 Disputed
FAM53B
(HGNC:28968)
cocaine dependence
(MONDO_0005186)
 Limited
KRTCAP2
(HGNC:28942)
gastric cancer
(MONDO_0001056)
 Limited
OLA1
(HGNC:28833)
familial dilated cardiomyopathy
(MONDO_0016333)
 Limited
SCARA5
(HGNC:28701)
hemochromatosis type 1
(MONDO_0021001)
 Disputed
DPH3
(HGNC:27717)
melanoma
(MONDO_0005105)
 Limited
MAP3K19
(HGNC:26249)
keratoconus
(MONDO_0015486)
 Limited
RNF186
(HGNC:25978)
Crohn disease
(MONDO_0005011)
 Limited
CLIP2
(HGNC:2586)
Williams syndrome
(MONDO_0008678)
 Disputed
SLC25A36
(HGNC:25554)
hyperinsulinism-hyperammonemia syndrome
(MONDO_0011717)
 Moderate
Showing 61–80 of 6681