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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
DGCR2
(HGNC:2845)
schizophrenia
(MONDO_0005090)
 Limited
TSEN2
(HGNC:28422)
atypical hemolytic-uremic syndrome
(MONDO_0016244)
 Moderate
STAC3
(HGNC:28423)
Bailey-Bloch congenital myopathy
(MONDO_0009722)
 Definitive
TSEN2
(HGNC:28422)
pontocerebellar hypoplasia
(MONDO_0020135)
 Strong
THOC6
(HGNC:28369)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
(MONDO_0013362)
 Strong
WBP2NL
(HGNC:28389)
breast cancer
(MONDO_0007254)
 Disputed
HORMAD2
(HGNC:28383)
IgA glomerulonephritis
(MONDO_0005342)
 Limited
CHCHD7
(HGNC:28314)
pleomorphic adenoma
(MONDO_0008401)
 Limited
CCDC32
(HGNC:28295)
cardiofacioneurodevelopmental syndrome
(MONDO_0030873)
 Moderate
MIEN1
(HGNC:28230)
breast cancer
(MONDO_0007254)
 Disputed
TLCD5
(HGNC:28280)
exfoliation syndrome
(MONDO_0008327)
 Disputed
UTP23
(HGNC:28224)
colorectal cancer
(MONDO_0005575)
 Limited
ZXDC
(HGNC:28160)
acquired polycythemia vera
(MONDO_0009891)
 Limited
PIGY
(HGNC:28213)
congenital disorder of glycosylation
(MONDO_0015286)
 Moderate
UBLCP1
(HGNC:28110)
psoriasis
(MONDO_0005083)
 Limited
ADRA1D
(HGNC:280)
gastroparesis
(MONDO_0006769)
 Limited
BBIP1
(HGNC:28093)
Bardet-Biedl syndrome
(MONDO_0015229)
 Moderate
MARCHF2
(HGNC:28038)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
ZNF517
(HGNC:27984)
Temple-Baraitser syndrome
(MONDO_0012735)
 Disputed
ZNF517
(HGNC:27984)
Zimmermann-Laband syndrome
(MONDO_0000200)
 Disputed
Showing 5701–5720 of 6681