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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
BCHE
(HGNC:983)
butyrylcholinesterase deficiency
(MONDO_0015270)
 Definitive
RAI1
(HGNC:9834)
Potocki-Lupski syndrome
(MONDO_0012574)
 Strong
RAG2
(HGNC:9832)
Omenn syndrome
(MONDO_0011338)
 Strong
RAG1
(HGNC:9831)
immunodeficiency disease
(MONDO_0021094)
 Strong
RAF1
(HGNC:9829)
Noonan syndrome
(MONDO_0018997)
 Definitive
RAF1
(HGNC:9829)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Moderate
RAF1
(HGNC:9829)
LEOPARD syndrome 2
(MONDO_0012691)
 Limited
RAD51D
(HGNC:9823)
hereditary breast carcinoma
(MONDO_0016419)
 Moderate
RAF1
(HGNC:9829)
Costello syndrome
(MONDO_0009026)
 Disputed
RAF1
(HGNC:9829)
Noonan syndrome with multiple lentigines
(MONDO_0007893)
 Strong
RAD51C
(HGNC:9820)
Fanconi anemia
(MONDO_0019391)
 Strong
RAD51D
(HGNC:9823)
hereditary breast ovarian cancer syndrome
(MONDO_0003582)
 Strong
RAD51C
(HGNC:9820)
hereditary breast carcinoma
(MONDO_0016419)
 Moderate
RAD51C
(HGNC:9820)
hereditary breast ovarian cancer syndrome
(MONDO_0003582)
 Strong
RAD51C
(HGNC:9820)
Fanconi anemia complementation group O
(MONDO_0013248)
 Moderate
RAD51
(HGNC:9817)
familial congenital mirror movements
(MONDO_0016558)
 Disputed
RAD51
(HGNC:9817)
Fanconi anemia
(MONDO_0019391)
 Limited
RAD51
(HGNC:9817)
hereditary breast carcinoma
(MONDO_0016419)
 Limited
RAB7A
(HGNC:9788)
Charcot-Marie-Tooth disease type 2
(MONDO_0018993)
 Strong
RAD50
(HGNC:9816)
hereditary breast carcinoma
(MONDO_0016419)
 Disputed
Showing 161–180 of 6681