Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries

Gene–Disease Browser

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Gene Disease Score Actions
RLBP1
(HGNC:10024)
fundus albipunctatus
(MONDO_0007639)
Strong
GRK1
(HGNC:10013)
Oguchi disease-2
(MONDO_0013259)
Strong
RHO
(HGNC:10012)
congenital stationary night blindness
(MONDO_0016293)
Strong
RHAG
(HGNC:10006)
overhydrated hereditary stomatocytosis
(MONDO_0008493)
Limited
RGS9
(HGNC:10004)
bradyopsia
(MONDO_0012033)
Strong
RDH5
(HGNC:9940)
fundus albipunctatus
(MONDO_0007639)
Definitive
RBM10
(HGNC:9896)
TARP syndrome
(MONDO_0010711)
Definitive
RASA1
(HGNC:9871)
capillary malformation-arteriovenous malformation syndrome
(MONDO_0012016)
Definitive
BCKDHB
(HGNC:987)
maple syrup urine disease
(MONDO_0009563)
Definitive
RAI1
(HGNC:9834)
Smith-Magenis syndrome
(MONDO_0008434)
Definitive
RARA
(HGNC:9864)
acute promyelocytic leukemia
(MONDO_0012883)
Definitive
RAG2
(HGNC:9832)
severe combined immunodeficiency
(MONDO_0015974)
Definitive
RAG1
(HGNC:9831)
severe combined immunodeficiency
(MONDO_0015974)
Definitive
RAG1
(HGNC:9831)
Omenn syndrome
(MONDO_0011338)
Definitive
RAD21
(HGNC:9811)
Cornelia de Lange syndrome
(MONDO_0016033)
Strong
RAB27A
(HGNC:9766)
Griscelli syndrome
(MONDO_0018306)
Definitive
RAB27A
(HGNC:9766)
hemophagocytic syndrome
(MONDO_0015540)
Definitive
RAB27A
(HGNC:9766)
Griscelli syndrome type 2
(MONDO_0011872)
Definitive
QDPR
(HGNC:9752)
dihydropteridine reductase deficiency
(MONDO_0009862)
Definitive
PYGM
(HGNC:9726)
glycogen storage disease V
(MONDO_0009293)
Definitive
Showing 4341–4360 of 6681