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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
ROR2
(HGNC:10257)
brachydactyly type B1
(MONDO_0007220)
 Strong
CNNM2
(HGNC:103)
hypomagnesemia, seizures, and intellectual disability 1
(MONDO_0020787)
 Strong
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)
 Moderate
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)
 Strong
BCS1L
(HGNC:1020)
GRACILE syndrome
(MONDO_0011308)
 Definitive
RLBP1
(HGNC:10024)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
ROBO1
(HGNC:10249)
pituitary stalk interruption syndrome
(MONDO_0019828)
 Moderate
BCS1L
(HGNC:1020)
Bjornstad syndrome
(MONDO_0009872)
 Strong
RLBP1
(HGNC:10024)
Newfoundland cone-rod dystrophy
(MONDO_0011839)
 Strong
RLBP1
(HGNC:10024)
retinitis punctata albescens
(MONDO_0018877)
 Strong
RIPK1
(HGNC:10019)
autoinflammation with episodic fever and lymphadenopathy
(MONDO_0030018)
 Strong
Showing 4321–4340 of 6681