Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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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
Showing 4341–4360 of 6699