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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
S100A14
(HGNC:18901)
esophageal squamous cell carcinoma
(MONDO_0005580)
 Limited
SLCO5A1
(HGNC:19046)
mesomelia-synostoses syndrome
(MONDO_0010881)
 Disputed
TAS2R31
(HGNC:19113)
autism spectrum disorder
(MONDO_0005258)
 Limited
PIGM
(HGNC:18858)
congenital disorder of glycosylation
(MONDO_0015286)
 Moderate
KCNRG
(HGNC:18893)
B-cell chronic lymphocytic leukemia
(MONDO_0004948)
 Limited
CREB3L1
(HGNC:18856)
osteogenesis imperfecta
(MONDO_0019019)
 Strong
CREB3L4
(HGNC:18854)
prostate cancer
(MONDO_0008315)
 Limited
KLHL10
(HGNC:18829)
male infertility
(MONDO_0005372)
 Limited
RIN2
(HGNC:18750)
RIN2 syndrome
(MONDO_0013115)
 Strong
CFL2
(HGNC:1875)
myofibrillar myopathy
(MONDO_0018943)
 Limited
CRB2
(HGNC:18688)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
 Strong
SLURP1
(HGNC:18746)
mal de Meleda
(MONDO_0009552)
 Definitive
NFXL1
(HGNC:18726)
specific language impairment
(MONDO_0000724)
 Limited
DDX4
(HGNC:18700)
neuroblastoma
(MONDO_0005072)
 Disputed
EIF4A3
(HGNC:18683)
Richieri Costa-Pereira syndrome
(MONDO_0009998)
 Strong
PALS1
(HGNC:18669)
COVID-19
(MONDO_0100096)
 Disputed
ZBTB7B
(HGNC:18668)
prostate cancer
(MONDO_0008315)
 Limited
SUGP2
(HGNC:18641)
hereditary hemochromatosis
(MONDO_0006507)
 Moderate
CER1
(HGNC:1862)
osteoporosis
(MONDO_0005298)
 Limited
KMT2E
(HGNC:18541)
O'Donnell-Luria-Rodan syndrome
(MONDO_0032793)
 Definitive
Showing 6161–6180 of 6681