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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
COG2
(HGNC:6546)
congenital disorder of glycosylation
(MONDO_0015286)
 Limited
COG1
(HGNC:6545)
congenital disorder of glycosylation
(MONDO_0015286)
 Moderate
ARF1
(HGNC:652)
periventricular nodular heterotopia
(MONDO_0020341)
 Strong
LARS1
(HGNC:6512)
infantile liver failure syndrome 1
(MONDO_0024568)
 Strong
LAIR2
(HGNC:6478)
pemphigus foliaceus
(MONDO_0019324)
 Limited
KRT86
(HGNC:6463)
monilethrix
(MONDO_0008009)
 Strong
KRT82
(HGNC:6459)
keratoconus
(MONDO_0015486)
 Limited
KRT6B
(HGNC:6444)
pachyonychia congenita
(MONDO_0016471)
 Strong
KRT4
(HGNC:6441)
hereditary mucosal leukokeratosis
(MONDO_0015748)
 Strong
KRT2
(HGNC:6439)
superficial epidermolytic ichthyosis
(MONDO_0007813)
 Strong
AQP8
(HGNC:642)
colorectal cancer
(MONDO_0005575)
 Limited
KRT13
(HGNC:6415)
hereditary mucosal leukokeratosis
(MONDO_0015748)
 Strong
KRT12
(HGNC:6414)
Meesmann corneal dystrophy
(MONDO_0007379)
 Definitive
KIFC1
(HGNC:6389)
primary ciliary dyskinesia
(MONDO_0016575)
 Disputed
KMO
(HGNC:6381)
schizophrenia
(MONDO_0005090)
 Disputed
AQP3
(HGNC:636)
COVID-19
(MONDO_0100096)
 Limited
KLK14
(HGNC:6362)
prostate cancer
(MONDO_0008315)
 Limited
KLHL3
(HGNC:6354)
pseudohypoaldosteronism type 2
(MONDO_0019162)
 Definitive
KCNS2
(HGNC:6301)
essential tremor
(MONDO_0003233)
 Limited
KCNMB2
(HGNC:6286)
hippocampal sclerosis of aging
(MONDO_0005544)
 Limited
Showing 5341–5360 of 6681