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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
GRAMD1B
(HGNC:29214)
multiple sclerosis
(MONDO_0005301)
 Limited
SH3PXD2B
(HGNC:29242)
Frank-Ter Haar syndrome
(MONDO_0009579)
 Definitive
ARHGAP31
(HGNC:29216)
Adams-Oliver syndrome
(MONDO_0007034)
 Strong
BAHCC1
(HGNC:29279)
spinal muscular atrophy
(MONDO_0001516)
 Disputed
ZNF512B
(HGNC:29212)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Limited
PLCH1
(HGNC:29185)
holoprosencephaly
(MONDO_0016296)
 Moderate
TCF25
(HGNC:29181)
cerebrovascular disorder
(MONDO_0011057)
 Limited
TCF25
(HGNC:29181)
dementia
(MONDO_0001627)
 Disputed
KDM4B
(HGNC:29136)
corpus callosum, agenesis of
(MONDO_0009022)
 Limited
KAZN
(HGNC:29173)
endometriosis
(MONDO_0005133)
 Limited
IQCE
(HGNC:29171)
polydactyly
(MONDO_0021003)
 Moderate
DLX3
(HGNC:2916)
tricho-dento-osseous syndrome
(MONDO_0008592)
 Definitive
DENND3
(HGNC:29134)
hereditary hemochromatosis
(MONDO_0006507)
 Limited
DLL4
(HGNC:2910)
Adams-Oliver syndrome
(MONDO_0007034)
 Strong
TESPA1
(HGNC:29109)
systemic lupus erythematosus
(MONDO_0007915)
 Limited
TESPA1
(HGNC:29109)
rheumatoid arthritis
(MONDO_0008383)
 Limited
DLL3
(HGNC:2909)
spondylocostal dysostosis
(MONDO_0000359)
 Definitive
PDS5A
(HGNC:29088)
Cornelia de Lange syndrome
(MONDO_0016033)
 Limited
VWA8
(HGNC:29071)
rheumatoid arthritis
(MONDO_0008383)
 Disputed
ENTREP2
(HGNC:29075)
age-related macular degeneration
(MONDO_0005150)
 Limited
Showing 5641–5660 of 6681