Stats
Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
RPS20
(HGNC:10405)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
RPGR
(HGNC:10295)
|
cone-rod dystrophy
(MONDO_0015993)
|
Strong
|
|
|
RPS10
(HGNC:10383)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPL5
(HGNC:10360)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Definitive
|
|
|
RPL3L
(HGNC:10351)
|
dilated cardiomyopathy
(MONDO_0005021)
|
Moderate
|
|
|
RPL35A
(HGNC:10345)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Strong
|
|
|
RPL35
(HGNC:10344)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Limited
|
|
|
RPL26
(HGNC:10327)
|
Diamond-Blackfan anemia
(MONDO_0015253)
|
Moderate
|
|
|
BCS1L
(HGNC:1020)
|
mitochondrial complex III deficiency
(MONDO_0015448)
|
Strong
|
|
|
RPE65
(HGNC:10294)
|
Leber congenital amaurosis 2
(MONDO_0008765)
|
Definitive
|
|
|
BCS1L
(HGNC:1020)
|
Leigh syndrome
(MONDO_0009723)
|
Limited
|
|
|
BCS1L
(HGNC:1020)
|
GRACILE syndrome
(MONDO_0011308)
|
Definitive
|
|
|
RLBP1
(HGNC:10024)
|
retinitis pigmentosa
(MONDO_0019200)
|
Strong
|
|
|
ROBO1
(HGNC:10249)
|
pituitary stalk interruption syndrome
(MONDO_0019828)
|
Limited
|
|
|
BCS1L
(HGNC:1020)
|
Bjornstad syndrome
(MONDO_0009872)
|
Strong
|
|
|
RLBP1
(HGNC:10024)
|
Newfoundland cone-rod dystrophy
(MONDO_0011839)
|
Moderate
|
|
|
RLBP1
(HGNC:10024)
|
retinitis punctata albescens
(MONDO_0018877)
|
Strong
|
|
|
RIPK1
(HGNC:10019)
|
autoinflammation with episodic fever and lymphadenopathy
(MONDO_0030018)
|
Strong
|
|
|
RLBP1
(HGNC:10024)
|
fundus albipunctatus
(MONDO_0007639)
|
Moderate
|
|
|
GRK1
(HGNC:10013)
|
Oguchi disease-2
(MONDO_0013259)
|
Strong
|
|