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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
PTS
(HGNC:9689)
BH4-deficient hyperphenylalaninemia A
(MONDO_0009863)
 Definitive
BBS2
(HGNC:967)
retinitis pigmentosa
(MONDO_0019200)
 Moderate
BBS2
(HGNC:967)
Bardet-Biedl syndrome
(MONDO_0015229)
 Definitive
PTPRQ
(HGNC:9679)
autosomal recessive nonsyndromic hearing loss 84A
(MONDO_0013249)
 Strong
BBS2
(HGNC:967)
ciliopathy
(MONDO_0005308)
 Strong
PTPRJ
(HGNC:9673)
colorectal cancer
(MONDO_0005575)
 Limited
PTPN22
(HGNC:9652)
rheumatoid arthritis
(MONDO_0008383)
 Strong
PTPN22
(HGNC:9652)
systemic lupus erythematosus
(MONDO_0007915)
 Strong
PTPN11
(HGNC:9644)
Noonan syndrome
(MONDO_0018997)
 Definitive
PTPN11
(HGNC:9644)
cardiofaciocutaneous syndrome
(MONDO_0015280)
 Limited
PTPN11
(HGNC:9644)
Noonan syndrome with multiple lentigines
(MONDO_0007893)
 Definitive
BAZ2B
(HGNC:963)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
PTPN11
(HGNC:9644)
metachondromatosis
(MONDO_0007979)
 Strong
PTPN11
(HGNC:9644)
Costello syndrome
(MONDO_0009026)
 Disputed
PTHLH
(HGNC:9607)
brachydactyly type E
(MONDO_0019677)
 Strong
PTH1R
(HGNC:9608)
Eiken syndrome
(MONDO_0010803)
 Strong
PTEN
(HGNC:9588)
Lhermitte-Duclos disease
(MONDO_0019002)
 Definitive
HACD1
(HGNC:9639)
congenital myopathy
(MONDO_0019952)
 Strong
PTH1R
(HGNC:9608)
primary failure of tooth eruption
(MONDO_0007434)
 Definitive
PTH1R
(HGNC:9608)
chondrodysplasia Blomstrand type
(MONDO_0008970)
 Strong
Showing 201–220 of 6681