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Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
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Gene
Disease
Score
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STAC3
(HGNC:28423)
Bailey-Bloch congenital myopathy
(MONDO_0009722)
Strong
TSEN2
(HGNC:28422)
pontocerebellar hypoplasia
(MONDO_0020135)
Moderate
THOC6
(HGNC:28369)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
(MONDO_0013362)
Strong
WBP2NL
(HGNC:28389)
breast cancer
(MONDO_0007254)
Limited
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)
Limited
TLCD5
(HGNC:28280)
exfoliation syndrome
(MONDO_0008327)
Limited
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)
Limited
ZNF517
(HGNC:27984)
Zimmermann-Laband syndrome
(MONDO_0000200)
Disputed
SLC6A19
(HGNC:27960)
Hartnup disease
(MONDO_0009324)
Definitive
DFFB
(HGNC:2773)
polycystic ovary syndrome
(MONDO_0008487)
Limited
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