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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
Search gene/disease/HGNC/MONDO or name
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Gene
Disease
Score
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IRX4
(HGNC:6129)
congenital heart disease
(MONDO_0005453)
Limited
IRF6
(HGNC:6121)
van der Woude syndrome 1
(MONDO_0007333)
Definitive
IRF6
(HGNC:6121)
tooth agenesis
(MONDO_0005486)
Limited
IRF5
(HGNC:6120)
systemic lupus erythematosus
(MONDO_0007915)
Strong
IRAK1
(HGNC:6112)
systemic lupus erythematosus
(MONDO_0007915)
Strong
PDX1
(HGNC:6107)
maturity-onset diabetes of the young
(MONDO_0018911)
Moderate
PDX1
(HGNC:6107)
permanent neonatal diabetes mellitus
(MONDO_0100164)
Moderate
PDX1
(HGNC:6107)
pancreatic agenesis
(MONDO_0009832)
Moderate
FOXP3
(HGNC:6106)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
(MONDO_0010580)
Definitive
ABCC9
(HGNC:60)
Brugada syndrome
(MONDO_0015263)
Limited
ABCC9
(HGNC:60)
dilated cardiomyopathy
(MONDO_0005021)
Limited
APOC2
(HGNC:609)
familial apolipoprotein C-II deficiency
(MONDO_0008810)
Strong
INSR
(HGNC:6091)
insulin-resistance syndrome type A
(MONDO_0012520)
Strong
INSR
(HGNC:6091)
Donohue syndrome
(MONDO_0009517)
Definitive
INSR
(HGNC:6091)
Rabson-Mendenhall syndrome
(MONDO_0009874)
Definitive
INS
(HGNC:6081)
permanent neonatal diabetes mellitus
(MONDO_0100164)
Strong
INSL3
(HGNC:6086)
cryptorchidism
(MONDO_0009047)
Moderate
INS
(HGNC:6081)
monogenic diabetes
(MONDO_0015967)
Strong
INS
(HGNC:6081)
transient neonatal diabetes mellitus
(MONDO_0020525)
Limited
INS
(HGNC:6081)
maturity-onset diabetes of the young
(MONDO_0018911)
Moderate
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