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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
CSTA
(HGNC:2481)
exfoliative ichthyosis
(MONDO_0017339)
 Limited
CSTA
(HGNC:2481)
acral peeling skin syndrome
(MONDO_0012345)
 Moderate
ZNF699
(HGNC:24750)
DEGCAGS syndrome
(MONDO_0859181)
 Limited
LRIT3
(HGNC:24783)
congenital stationary night blindness
(MONDO_0016293)
 Moderate
CST3
(HGNC:2475)
ACys amyloidosis
(MONDO_0007098)
 Definitive
FAM111A
(HGNC:24725)
osteocraniostenosis
(MONDO_0011215)
 Strong
NHLRC2
(HGNC:24731)
fibrosis, neurodegeneration, and cerebral angiomatosis
(MONDO_0032651)
 Strong
CSRP3
(HGNC:2472)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Moderate
FAM111A
(HGNC:24725)
autosomal dominant Kenny-Caffey syndrome
(MONDO_0007478)
 Strong
QRICH1
(HGNC:24713)
Ververi-Brady syndrome
(MONDO_0060707)
 Moderate
EHMT1
(HGNC:24650)
Kleefstra syndrome 1
(MONDO_0027407)
 Definitive
VPS35L
(HGNC:24641)
Ritscher-Schinzel syndrome
(MONDO_0019078)
 Moderate
SIL1
(HGNC:24624)
Marinesco-Sjogren syndrome
(MONDO_0009567)
 Strong
CSRP3
(HGNC:2472)
dilated cardiomyopathy
(MONDO_0005021)
 Limited
NRROS
(HGNC:24613)
seizures, early-onset, with neurodegeneration and brain calcifications
(MONDO_0030033)
 Moderate
EPS15L1
(HGNC:24634)
split hand-foot malformation
(MONDO_0016576)
 Disputed
SMC3
(HGNC:2468)
Cornelia de Lange syndrome
(MONDO_0016033)
 Strong
CFHR5
(HGNC:24668)
C3 glomerulonephritis
(MONDO_0013892)
 Limited
DYNC2LI1
(HGNC:24595)
short-rib thoracic dysplasia 15 with polydactyly
(MONDO_0014907)
 Strong
ANKS1B
(HGNC:24600)
neurodevelopmental disorder
(MONDO_0700092)
 Limited
Showing 2401–2420 of 6681