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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
RUNX1
(HGNC:10471)
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
(MONDO_0100083)
 Definitive
RYR1
(HGNC:10483)
lethal multiple pterygium syndrome
(MONDO_0009668)
 Limited
CLIP1
(HGNC:10461)
intellectual disability
(MONDO_0001071)
 Limited
RYR1
(HGNC:10483)
central core myopathy
(MONDO_0007294)
 Definitive
RPL11
(HGNC:10301)
Diamond-Blackfan anemia
(MONDO_0015253)
 Definitive
RPE65
(HGNC:10294)
retinitis pigmentosa
(MONDO_0019200)
 Strong
RPE65
(HGNC:10294)
severe early-childhood-onset retinal dystrophy
(MONDO_0009549)
 Strong
RS1
(HGNC:10457)
retinoschisis
(MONDO_0004579)
 Strong
ROR2
(HGNC:10257)
autosomal recessive Robinow syndrome
(MONDO_0009999)
 Definitive
RORB
(HGNC:10259)
epilepsy
(MONDO_0005027)
 Moderate
RPL21
(HGNC:10313)
hypotrichosis simplex
(MONDO_0018914)
 Limited
BGN
(HGNC:1044)
Meester-Loeys syndrome
(MONDO_0010515)
 Strong
RPS20
(HGNC:10405)
familial colorectal cancer type X
(MONDO_0018604)
 Moderate
RRAS
(HGNC:10447)
Noonan syndrome
(MONDO_0018997)
 Limited
ROM1
(HGNC:10254)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
RPIA
(HGNC:10297)
ribose-5-P isomerase deficiency
(MONDO_0012073)
 Moderate
RPS6KB1
(HGNC:10436)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
RPS6KA3
(HGNC:10432)
non-syndromic X-linked intellectual disability
(MONDO_0019181)
 Moderate
RPS24
(HGNC:10411)
Diamond-Blackfan anemia
(MONDO_0015253)
 Strong
RPS26
(HGNC:10414)
Diamond-Blackfan anemia
(MONDO_0015253)
 Definitive
Showing 4301–4320 of 6681