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 Actions
WDR13
(HGNC:14352)
intellectual disability
(MONDO_0001071)
 Limited
MRTFA
(HGNC:14334)
immunodeficiency 66
(MONDO_0030013)
 Moderate
EDARADD
(HGNC:14341)
tooth agenesis
(MONDO_0005486)
 Limited
IRF2BPL
(HGNC:14282)
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
(MONDO_0060759)
 Strong
PCDH19
(HGNC:14270)
developmental and epileptic encephalopathy, 9
(MONDO_0010246)
 Definitive
AUTS2
(HGNC:14262)
autism spectrum disorder due to AUTS2 deficiency
(MONDO_0014361)
 Strong
RAB18
(HGNC:14244)
Warburg micro syndrome
(MONDO_0016649)
 Strong
RAB23
(HGNC:14263)
RAB23-related Carpenter syndrome
(MONDO_0008710)
 Moderate
JPH3
(HGNC:14203)
Huntington disease-like 2
(MONDO_0011671)
 Strong
JPH2
(HGNC:14202)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Moderate
JPH2
(HGNC:14202)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
ELAC2
(HGNC:14198)
mitochondrial disease
(MONDO_0044970)
 Moderate
PIGQ
(HGNC:14135)
developmental and epileptic encephalopathy, 77
(MONDO_0032808)
 Limited
EHMT2
(HGNC:14129)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
DOCK9
(HGNC:14132)
keratoconus
(MONDO_0015486)
 Limited
NPRL3
(HGNC:14124)
familial focal epilepsy with variable foci
(MONDO_0020310)
 Moderate
NPRL3
(HGNC:14124)
focal epilepsy
(MONDO_0005384)
 Strong
XPO7
(HGNC:14108)
prostate cancer
(MONDO_0008315)
 Limited
BACH2
(HGNC:14078)
immunodeficiency 60
(MONDO_0032723)
 Moderate
HDAC4
(HGNC:14063)
2q37 microdeletion syndrome
(MONDO_0010886)
 Strong
Showing 3461–3480 of 6699