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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
THSD1
(HGNC:17754)
non-immune hydrops fetalis
(MONDO_0009369)
 Moderate
ADGRV1
(HGNC:17416)
Usher syndrome type 2C
(MONDO_0011558)
 Definitive
DCLRE1C
(HGNC:17642)
Omenn syndrome
(MONDO_0011338)
 Strong
DACT1
(HGNC:17748)
Townes-Brocks syndrome
(MONDO_0007142)
 Moderate
CDC6
(HGNC:1744)
Meier-Gorlin syndrome
(MONDO_0016817)
 Moderate
IL17RD
(HGNC:17616)
Kallmann syndrome
(MONDO_0018800)
 Limited
CDH3
(HGNC:1762)
EEM syndrome
(MONDO_0009155)
 Strong
ZNF674
(HGNC:17625)
intellectual disability
(MONDO_0001071)
 Disputed
NDE1
(HGNC:17619)
NDE1-related microhydranencephaly
(MONDO_0011504)
 Strong
ZNF674
(HGNC:17625)
X-linked intellectual disability
(MONDO_0100284)
 Disputed
ACVRL1
(HGNC:175)
telangiectasia, hereditary hemorrhagic, type 2
(MONDO_0010880)
 Definitive
CDH2
(HGNC:1759)
agenesis of corpus callosum, cardiac, ocular, and genital syndrome
(MONDO_0030065)
 Strong
KAT6B
(HGNC:17582)
RASopathy
(MONDO_0021060)
 Limited
SPEN
(HGNC:17575)
Radio-Tartaglia syndrome
(MONDO_0859143)
 Moderate
CDH2
(HGNC:1759)
arrhythmogenic right ventricular cardiomyopathy
(MONDO_0016587)
 Limited
CDH1
(HGNC:1748)
hereditary diffuse gastric adenocarcinoma
(MONDO_0007648)
 Strong
CDC6
(HGNC:1744)
Meier-Gorlin syndrome 5
(MONDO_0013432)
 Limited
CDH15
(HGNC:1754)
intellectual disability
(MONDO_0001071)
 Limited
CLCF1
(HGNC:17412)
cold-induced sweating syndrome
(MONDO_0015526)
 Strong
HOMER2
(HGNC:17513)
nonsyndromic genetic hearing loss
(MONDO_0019497)
 Strong
Showing 3081–3100 of 6681