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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
PKP4
(HGNC:9026)
sick sinus syndrome
(MONDO_0001823)
 Limited
PKP1
(HGNC:9023)
epidermolysis bullosa simplex due to plakophilin deficiency
(MONDO_0011472)
 Strong
PKNOX1
(HGNC:9022)
plasma cell myeloma
(MONDO_0009693)
 Limited
PI4KB
(HGNC:8984)
EAST syndrome
(MONDO_0013005)
 Limited
PIGL
(HGNC:8966)
CHIME syndrome
(MONDO_0010221)
 Strong
INPP5J
(HGNC:8956)
prostate cancer
(MONDO_0008315)
 Disputed
INPP5J
(HGNC:8956)
breast cancer
(MONDO_0007254)
 Disputed
INPP5J
(HGNC:8956)
uterine corpus leiomyoma
(MONDO_0007886)
 Disputed
SERPINA4
(HGNC:8948)
acute kidney failure
(MONDO_0002492)
 Limited
INPP5J
(HGNC:8956)
colon carcinoma
(MONDO_0002032)
 Limited
PGAM2
(HGNC:8889)
glycogen storage disease due to phosphoglycerate mutase deficiency
(MONDO_0009865)
 Strong
PEX3
(HGNC:8858)
peroxisome biogenesis disorder
(MONDO_0019234)
 Strong
PEX13
(HGNC:8855)
peroxisome biogenesis disorder
(MONDO_0019234)
 Strong
ATRN
(HGNC:885)
restless legs syndrome
(MONDO_0005391)
 Disputed
PEX12
(HGNC:8854)
Zellweger spectrum disorders
(MONDO_0019609)
 Definitive
PEX12
(HGNC:8854)
peroxisome biogenesis disorder
(MONDO_0019234)
 Definitive
PDK4
(HGNC:8812)
type 2 diabetes mellitus
(MONDO_0005148)
 Disputed
PDK4
(HGNC:8812)
abdominal obesity-metabolic syndrome
(MONDO_0000816)
 Disputed
ACAD8
(HGNC:87)
isobutyryl-CoA dehydrogenase deficiency
(MONDO_0012648)
 Strong
PDCD2
(HGNC:8762)
type 1 diabetes mellitus
(MONDO_0005147)
 Disputed
Showing 5221–5240 of 6681