Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

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
NDUFAF5
(HGNC:15899)
Leigh syndrome
(MONDO_0009723)
 Strong
SLC2A4RG
(HGNC:15930)
multiple sclerosis
(MONDO_0005301)
 Strong
IFT52
(HGNC:15901)
ciliopathy
(MONDO_0005308)
 Strong
IFT52
(HGNC:15901)
cranioectodermal dysplasia
(MONDO_0009032)
 Strong
CCNF
(HGNC:1591)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
TP53TG5
(HGNC:15856)
intellectual disability
(MONDO_0001071)
 Limited
GZF1
(HGNC:15808)
Larsen syndrome
(MONDO_0007875)
 Strong
MOCS3
(HGNC:15765)
sulfite oxidase deficiency due to molybdenum cofactor deficiency
(MONDO_0020480)
 Strong
MYL9
(HGNC:15754)
megacystis-microcolon-intestinal hypoperistalsis syndrome
(MONDO_0025986)
 Strong
BPIFA1
(HGNC:15749)
lung cancer
(MONDO_0008903)
 Limited
BPIFA1
(HGNC:15749)
nasopharyngeal carcinoma
(MONDO_0015459)
 Strong
MYL9
(HGNC:15754)
visceral myopathy 1
(MONDO_0020754)
 Limited
KIRREL1
(HGNC:15734)
steroid-resistant nephrotic syndrome
(MONDO_0044765)
 Strong
RASSF9
(HGNC:15739)
familial colorectal cancer type X
(MONDO_0018604)
 Disputed
B3GNT2
(HGNC:15629)
muscular dystrophy-dystroglycanopathy, type A
(MONDO_0000171)
 Strong
SLC12A8
(HGNC:15595)
psoriasis
(MONDO_0005083)
 Strong
SYTL2
(HGNC:15585)
colorectal cancer
(MONDO_0005575)
 Strong
CBX7
(HGNC:1557)
plasma cell myeloma
(MONDO_0009693)
 Strong
EPPK1
(HGNC:15577)
childhood acute lymphoblastic leukemia
(MONDO_0000870)
 Limited
CBX4
(HGNC:1554)
hepatocellular carcinoma
(MONDO_0007256)
 Moderate
Showing 6361–6380 of 6681