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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
AP3S2
(HGNC:571)
obesity disorder
(MONDO_0011122)
 Limited
AP3S2
(HGNC:571)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
AP1S2
(HGNC:560)
X-linked intellectual disability
(MONDO_0100284)
 Definitive
AP1S1
(HGNC:559)
MEDNIK syndrome
(MONDO_0012251)
 Definitive
IFI35
(HGNC:5399)
acute myeloid leukemia
(MONDO_0018874)
 Limited
IGFBP6
(HGNC:5475)
intervertebral disk degenerative disorder
(MONDO_0011385)
 Limited
ID3
(HGNC:5362)
Burkitt lymphoma
(MONDO_0007243)
 Strong
IFNA17
(HGNC:5422)
sarcoidosis
(MONDO_0019338)
 Limited
IDH3A
(HGNC:5384)
retinitis pigmentosa
(MONDO_0019200)
 Limited
HTR1E
(HGNC:5291)
attention deficit-hyperactivity disorder
(MONDO_0007743)
 Limited
HSPB3
(HGNC:5248)
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
 Limited
HSPA9
(HGNC:5244)
even-plus syndrome
(MONDO_0014801)
 Strong
HSPA6
(HGNC:5239)
EAST syndrome
(MONDO_0013005)
 Disputed
HS3ST1
(HGNC:5194)
type 2 diabetes mellitus
(MONDO_0005148)
 Disputed
HS3ST1
(HGNC:5194)
cardiovascular disorder
(MONDO_0004995)
 Limited
KRR1
(HGNC:5176)
polycystic ovary syndrome
(MONDO_0008487)
 Limited
GSG1L2
(HGNC:51826)
neurodevelopmental disorder
(MONDO_0700092)
 Disputed
HPX
(HGNC:5171)
hemochromatosis type 1
(MONDO_0021001)
 Disputed
HPD
(HGNC:5147)
tyrosinemia type III
(MONDO_0010162)
 Strong
HPD
(HGNC:5147)
hawkinsinuria
(MONDO_0007700)
 Moderate
Showing 5381–5400 of 6681