Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
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)
|
Definitive
|
|
|
RS1
(HGNC:10457)
|
retinoschisis
(MONDO_0004579)
|
Definitive
|
|
|
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)
|
Limited
|
|
|
RPS24
(HGNC:10411)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPS26
(HGNC:10414)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
ROR2
(HGNC:10257)
|
brachydactyly type B1
(MONDO_0007220)
|
Strong
|
|
|
CNNM2
(HGNC:103)
|
hypomagnesemia, seizures, and intellectual disability 1
(MONDO_0020787)
|
Strong
|
|