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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
PDE1B
(HGNC:8775)
schizophrenia
(MONDO_0005090)
 Limited
PCOLCE2
(HGNC:8739)
colorectal cancer
(MONDO_0005575)
 Limited
PANX2
(HGNC:8600)
schizophrenia
(MONDO_0005090)
 Disputed
ATP6V1B2
(HGNC:854)
DOORS syndrome
(MONDO_0009079)
 Strong
SLC45A3
(HGNC:8642)
prostate cancer
(MONDO_0008315)
 Limited
PACSIN2
(HGNC:8571)
acute lymphoblastic leukemia
(MONDO_0004967)
 Limited
BLOC1S6
(HGNC:8549)
Hermansky-Pudlak syndrome
(MONDO_0019312)
 Strong
OVOL1
(HGNC:8525)
atopic eczema
(MONDO_0004980)
 Moderate
P2RY11
(HGNC:8540)
narcolepsy
(MONDO_0021107)
 Limited
ATP5PO
(HGNC:850)
mitochondrial disease
(MONDO_0044970)
 Moderate
OSM
(HGNC:8506)
cardiovascular disorder
(MONDO_0004995)
 Disputed
ACAA1
(HGNC:82)
asthma
(MONDO_0004979)
 Limited
OPTC
(HGNC:8158)
OPTN-related open angle glaucoma
(MONDO_0100553)
 Limited
ATP5PB
(HGNC:840)
acute myeloid leukemia
(MONDO_0018874)
 Limited
OPHN1
(HGNC:8148)
X-linked intellectual disability
(MONDO_0100284)
 Definitive
OCLN
(HGNC:8104)
pseudo-TORCH syndrome
(MONDO_0009626)
 Strong
ATP2A3
(HGNC:813)
benign essential blepharospasm
(MONDO_0011728)
 Limited
OCM
(HGNC:8105)
autism
(MONDO_0005260)
 Disputed
NUDT2
(HGNC:8049)
intellectual disability
(MONDO_0001071)
 Moderate
NRDC
(HGNC:7995)
alcohol dependence
(MONDO_0007079)
 Limited
Showing 5241–5260 of 6681