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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
INTS13
(HGNC:20174)
Kallmann syndrome
(MONDO_0018800)
 Limited
NRDE2
(HGNC:20186)
hepatocellular carcinoma
(MONDO_0007256)
 Limited
INTS13
(HGNC:20174)
intellectual disability
(MONDO_0001071)
 Limited
ASPG
(HGNC:20123)
aspartylglucosaminuria
(MONDO_0008830)
 Strong
ABHD4
(HGNC:20154)
anorexia nervosa
(MONDO_0005351)
 Limited
TEDC1
(HGNC:20127)
autosomal recessive primary microcephaly
(MONDO_0016660)
 Limited
FLVCR2
(HGNC:20105)
Fowler syndrome
(MONDO_0009168)
 Definitive
CHURC1
(HGNC:20099)
autism
(MONDO_0005260)
 Limited
ZNF408
(HGNC:20041)
exudative vitreoretinopathy
(MONDO_0019516)
 Strong
USP46
(HGNC:20075)
essential tremor
(MONDO_0003233)
 Limited
USP36
(HGNC:20062)
premature menopause
(MONDO_0001119)
 Limited
ADAM20
(HGNC:199)
Alzheimer disease
(MONDO_0004975)
 Limited
PLSCR5
(HGNC:19952)
bipolar disorder
(MONDO_0004985)
 Limited
MYORG
(HGNC:19918)
basal ganglia calcification, idiopathic, 1
(MONDO_0024538)
 Definitive
SCARF2
(HGNC:19869)
van den Ende-Gupta syndrome
(MONDO_0010959)
 Strong
MMRN2
(HGNC:19888)
Parkinson disease
(MONDO_0005180)
 Limited
GBP5
(HGNC:19895)
ovarian cancer
(MONDO_0008170)
 Limited
POU2F3
(HGNC:19864)
psoriasis
(MONDO_0005083)
 Limited
TC2N
(HGNC:19859)
von Willebrand disease (hereditary or acquired)
(MONDO_0024574)
 Limited
EPB41L4B
(HGNC:19818)
colorectal cancer
(MONDO_0005575)
 Disputed
Showing 6101–6120 of 6681