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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
GNMT
(HGNC:4415)
guanidinoacetate methyltransferase deficiency
(MONDO_0012999)
 Strong
GNPAT
(HGNC:4416)
rhizomelic chondrodysplasia punctata
(MONDO_0015776)
 Definitive
GNAI3
(HGNC:4387)
auriculocondylar syndrome
(MONDO_0000107)
 Strong
GNGT2
(HGNC:4412)
refractive error
(MONDO_0004892)
 Limited
GNAZ
(HGNC:4395)
neurofibromatosis type 1
(MONDO_0018975)
 Limited
GNAT1
(HGNC:4393)
congenital stationary night blindness
(MONDO_0016293)
 Strong
GLP2R
(HGNC:4325)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
GMDS
(HGNC:4369)
OPTN-related open angle glaucoma
(MONDO_0100553)
 Limited
CBLIF
(HGNC:4268)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Disputed
GFPT2
(HGNC:4242)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
CBLIF
(HGNC:4268)
hemolytic-uremic syndrome
(MONDO_0001549)
 Disputed
GFI1
(HGNC:4237)
severe congenital neutropenia
(MONDO_0018542)
 Moderate
GDF7
(HGNC:4222)
esophageal adenocarcinoma
(MONDO_0005028)
 Limited
GDF7
(HGNC:4222)
Barrett esophagus
(MONDO_0013662)
 Limited
GDF10
(HGNC:4215)
colon carcinoma
(MONDO_0002032)
 Limited
GDF10
(HGNC:4215)
rectal cancer
(MONDO_0006519)
 Limited
ALDOC
(HGNC:418)
hereditary fructose intolerance
(MONDO_0009249)
 Disputed
ALDOA
(HGNC:414)
hereditary fructose intolerance
(MONDO_0009249)
 Refuted
ALDH4A1
(HGNC:406)
hyperprolinemia type 2
(MONDO_0009401)
 Moderate
GALE
(HGNC:4116)
galactosemia
(MONDO_0018116)
 Strong
Showing 5441–5460 of 6681