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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
ATP8B3
(HGNC:13535)
colorectal cancer
(MONDO_0005575)
 Limited
FEZF2
(HGNC:13506)
intellectual disability
(MONDO_0001071)
 Limited
UGT2B28
(HGNC:13479)
prostate cancer
(MONDO_0008315)
 Disputed
UGT2B28
(HGNC:13479)
endometriosis
(MONDO_0005133)
 Limited
FAM78B
(HGNC:13495)
chronic kidney disease
(MONDO_0005300)
 Moderate
UBE3B
(HGNC:13478)
oculocerebrofacial syndrome, Kaufman type
(MONDO_0009485)
 Strong
SLITRK2
(HGNC:13449)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
ROBO3
(HGNC:13433)
horizontal gaze palsy with progressive scoliosis
(MONDO_0011810)
 Definitive
PRUNE1
(HGNC:13420)
neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies
(MONDO_0060490)
 Strong
PBX4
(HGNC:13403)
type 2 diabetes mellitus
(MONDO_0005148)
 Strong
SLC30A9
(HGNC:1329)
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
(MONDO_0044726)
 Strong
NAPSA
(HGNC:13395)
lung adenocarcinoma
(MONDO_0005061)
 Strong
NEK8
(HGNC:13387)
nephronophthisis
(MONDO_0019005)
 Strong
ECE2
(HGNC:13275)
Alzheimer disease
(MONDO_0004975)
 Moderate
EI24
(HGNC:13276)
osteosarcoma
(MONDO_0009807)
 Limited
CLEC4A
(HGNC:13257)
rheumatoid arthritis
(MONDO_0008383)
 Strong
CAPN12
(HGNC:13249)
colorectal cancer
(MONDO_0005575)
 Strong
ADAMTS10
(HGNC:13201)
Weill-Marchesani syndrome
(MONDO_0018096)
 Definitive
FTSJ1
(HGNC:13254)
X-linked intellectual disability
(MONDO_0100284)
 Strong
ZP2
(HGNC:13188)
female infertility
(MONDO_0021124)
 Strong
Showing 6481–6500 of 6681